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Publication

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).

Silvia Parajes | Angel O K Chan | W M But | Ian T Rose | Angela E Taylor | Vivek Dhir | Wiebke Arlt | Nils Krone
European journal of endocrinology | 2012

Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, the conversion of cholesterol to pregnenolone. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development (DSD).

Pubmed ID: 22968487

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Associated grants

  • Agency: Medical Research Council, United Kingdom
    Id: G0900567
  • Agency: Wellcome Trust, United Kingdom
    Id: GR079865MA
  • Agency: Medical Research Council, United Kingdom
    Id: 0900567

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