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Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 15/04/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 22/04/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 29/04/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 06/05/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 13/05/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 20/05/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 27/05/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 03/06/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 10/06/2007

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Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 17/06/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 24/06/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 01/07/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 08/07/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 15/07/2007

Orphanet database access

Orphanet database access

Adrenal hypoplasia congenital, X-linked Direct access to data Alias Cytomegalic adrenocortical hypoplasia Summary DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. Recent data suggest that abnormalities of spermatogenesis, independent of gonadotrophin production and due to a primary defect or Sertoli cells, may also comprise part of the clinical spectrum of DAX-1 mutations.*Author : Pr. A. Tabarin (July 2000)* Clinical signs Autosomal recessive inheritance Congenital cardiac anomaly Cortico-adrenal hypoplasia Hypoglycemia Increased skin pigmentation diffuse Late puberty/hypogonadism Respiratory distress Seizures ( any type) Short stature/dwarfism Abnormal gait E.M.G.abnormality Hypereflexia Hypothyroidy Neurological regression/dementia Paraparesis/quadraparesis Sparse/absent scalp hair(generalized) X-linked recessive inheritance Update : 22/07/2007

Orphanet database access