46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: P450scc DEFICIENCY
XY sex reversal - adrenal failure
Number of Symptoms 6
OrphanetNr: 168558
OMIM Id: 613743
ICD-10: Q56.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0012245) Sex reversal 13 / 7739
2
(HPO:0000127) Renal salt wasting 21 / 7739
3
(HPO:0000859) Hyperaldosteronism 17 / 7739
4
(HPO:0011749) Adrenocorticotropic hormone excess 1 / 7739
5
(HPO:0000846) Adrenal insufficiency 24 / 7739
6
(HPO:0000953) Hyperpigmentation of the skin 75 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female ...
Clinical Description OMIM In studying patients with clinical features of lipoid CAH, Tajima et al. (2001) encountered an individual with a heterozygous mutation in P450scc. The patient presented at 4 years of age with lethargy and hyperpigmentation. Serum sodium and potassium ...
Molecular genetics OMIM In studying patients with lipoid CAH (201710), Tajima et al. (2001) identified an individual with normal STAR (600617) and SF1 (184757) genes and a heterozygous mutation in CYP11A1 (118485.0001). The CYP11A1 mutation, an in-frame insertion of gly and ...