Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 15/04/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 22/04/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 29/04/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 06/05/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 13/05/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (somatostatin, pegvisomant, etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 20/05/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 27/05/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 03/06/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 10/06/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 17/06/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 24/06/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 01/07/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes. The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (computerised tomography scanning or magnetic resonance imaging) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (pegvisomant, for which EU marketing authorisation as an Orphan drug was obtained in 2002, somatostatin,.etc.), depending on the patient. The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 08/07/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 15/07/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 22/07/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotrophinoma, familial Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 29/07/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 05/08/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 12/08/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 19/08/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 26/08/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 02/09/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 09/09/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 16/09/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 23/09/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 30/09/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 07/10/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 14/10/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 21/10/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 28/10/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 04/11/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 18/11/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 25/11/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 02/12/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prognathism Tall stature Tapered fingers Thick lips Abnormal dental position Adenoma Increased body hair Kiphosis Synophris Update : 09/12/2007

Orphanet database access

Orphanet database access

Acromegaly Direct access to data Alias Gigantism (acromegaly, infantile and juvenile forms) Somatotroph adenoma Summary Acromegaly is a disease characterised by hypertrophy of the extremities and gigantism due to excessive secretion of growth hormone or somatotrophin (GH or STH) by the pituitary. Its estimated prevalence is between 1 in 25 000 and 1 in 15 000 individuals. Onset may occur at any age but is rare among elderly patients. Gigantism is the most prominent feature in individuals with onset before puberty. In adults, the increase in the size of the extremities is the most prominent feature. Other signs of the disorder (visual impairment, headaches) are associated with the presence of a hypophyseal adenoma. Hypersecretion of STH may also lead to cardiovascular disease or diabetes. The principle cause of the disease is the presence of a hypophyseal adenoma. In exceptional cases, acromegaly may be caused by ectopic hormone secretion associated with bronchopulmonary, pancreatic, renal, thyroid or ovarian cancer. Acromegaly may occur in isolation or may be associated with other diseases. It occurs as part of the multiple endocrine neoplasia type 1 (NEM1), Carney, and McCune-Albright syndromes (see these terms). The disease is sporadic (acquired) in most cases, but a familial form has been reported. The diagnosis is based on the clinical picture and on the results of laboratory analyses (measurements of hormone levels and GH suppression tests). Brain imagining (CT scanning or MRI) can be used to detect the hypophyseal adenoma. Treatment may be either surgical or pharmalogical (depending on the patient), with drug options including pegvisomant (a drug for which Orphan drug EU marketing authorisation was obtained in 2002 and somatostatin). The prognosis depends on the presence of cardiovascular or endocrinal complications. *Author: Orphanet (March 2006)*. Clinical signs Autosomal dominant inheritance Coarse face Enlarged diaphysis Hypothal.hypoph. axis abn. function Large hand Long face Long foot/arachnodactyly of toes Long/large ear Long/large/bulbous nose Macroglossia Macropenis/large penis Muscular build Prog