Poster Presentations

CYP11A1 Mutations Result in Various Clinical Phenotypes

  • Ayla Güven
  • Federica Buonocore
  • John Achermann
  • Tülay Güran

J Clin Res Pediatr Endocrinol 2017;9(1):2-3

Cytochrome P450 side-chain cleavage enzyme (CYP11A1) is the first enzyme and catalyzes the rate-limiting step of steroidogenesis. CYP11A1 deficiency is associated with adrenal insufficiency (AI) and commonly with a disorder of sex development (DSD) in 46,XY individuals. Our objective was to define the clinical presentation of our patients with CYP11A1 mutations, one of whom had a novel CYP11A1 mutation.

Four patients were presented. Case 2 has been reared as a girl and she has a novel CYP11A1 mutation. Cases 3 and 4 are siblings. Clinical findings are given in Table 1.

These cases demonstrate that CYP11A1 deficiency can be seen in the newborn period or in early childhood as classical or non-classical forms. Normal genital appearance can found in 46,XY patients in non-classic form and this does not exclude life-threatening AI risk.