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

Definition:

The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.

References:

[1]. Hessa al Kandari, et al. Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6. [Content Brief]

[2]. Petr Rubtsov, et al. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. J Clin Endocrinol Metab. 2009 Mar;94(3):936-9. [Content Brief]

[3]. Silvia Parajes, et al. 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). Eur J Endocrinol. 2012 Dec;167(6):881-5. [Content Brief]

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