Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete

Preferred Label : Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : P450scc deficiency;

Description : 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 external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011).;

Prefixed ID : #613743;

Details

Origin ID

613743;

UMLS CUI

C3151055;

Automatic exact mappings (from CISMeF team)
- 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency [ORDO Disease]
- Cholesterol Side-Chain Cleavage Deficiency [NCIt concept]
- congenital adrenal insufficiency [DO Concept]
DO Cross reference
- congenital adrenal insufficiency [DO Concept]
Genes related to phenotype
- Cytochrome p450, subfamily xia, polypeptide 1 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Adrenocorticotropic hormone excess [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Renal salt wasting [HPO term]
- Sex reversal [HPO term]
ORDO concept(s)
- 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesterol Side-Chain Cleavage Deficiency [NCIt concept]

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