Clinical Signs and Symptoms
ORPHA:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal sex determination HP:0012244
- Abnormal urine potassium concentration HP:0012598
- Abnormality of cholesterol metabolism HP:0003107
- Abnormality of prenatal development or birth HP:0001197
- Abnormality of the Leydig cells HP:0010789
- Absence of secondary sex characteristics HP:0008187
- Acidosis HP:0001941
- Adrenocorticotropic hormone excess HP:0011749
- Agenesis of corpus callosum HP:0001274
- Ambiguous genitalia, male HP:0000033
- Aplasia of the uterus HP:0000151
- Cryptorchidism HP:0000028
- Decreased circulating aldosterone level HP:0004319
- Decreased circulating androgen level HP:0030349
- Decreased circulating cortisol level HP:0008163
- Decreased fertility HP:0000144
- Decreased testicular size HP:0008734
- Dehydration HP:0001944
- Delayed puberty HP:0000823
- Delayed skeletal maturation HP:0002750
- Failure to thrive HP:0001508
- Feeding difficulties HP:0011968
- Female external genitalia in individual with 46,XY karyotype HP:0008730
- Generalized bronze hyperpigmentation HP:0007574
- Generalized hyperpigmentation HP:0007440
- Gynecomastia HP:0000771
- Hyperkalemia HP:0002153
- Hypernatriuria HP:0012605
- Hyponatremia HP:0002902
- Hypotension HP:0002615
- Hypovolemia HP:0011106
- Increased circulating ACTH level HP:0003154
- Increased circulating renin level HP:0000848
- Induced vaginal delivery HP:0030369
- Low maternal serum estriol HP:0008073
- Male pseudohermaphroditism HP:0000037
- Neonatal hypoglycemia HP:0001998
- Osteoporosis HP:0000939
- Primary adrenal insufficiency HP:0008207
- Reduced bone mineral density HP:0004349
- Renal salt wasting HP:0000127
- Sex reversal HP:0012245
- Urogenital sinus anomaly HP:0100779
- Vomiting HP:0002013
Very frequent
- Adrenal hypoplasia HP:0000835
- Elevated circulating follicle stimulating hormone level HP:0008232
- Elevated circulating luteinizing hormone level HP:0011969
- Premature birth HP:0001622
Frequent
- Abnormality of the vagina HP:0000142
- Clitoral hypertrophy HP:0008665
- Midshaft hypospadias HP:0012854
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.