Article
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
The Journal of clinical endocrinology and metabolism - 1 Nov 2011
Parajes Silvia, Kamrath Clemens, Rose Ian T, Taylor Angela E, Mooij Christiaan F, Dhir Vivek, Grötzinger Joachim, Arlt Wiebke, Krone Nils
Abstract excerpt
CONTEXT: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) facilitates the first and rate-limiting step of steroidogenesis. Only nine patients with CYP11A1 deficiency have been described. All patients presented with adrenal insufficiency (AI) and disorder of sex development in 46,XY individuals. OBJECTIVE: Our objective was to define the pathogenic consequences of a novel CYP11A1 mutation (p.R451W) found in...
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