Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)

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R-HSA-5579026
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Homo sapiens
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Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. Defects in CYP11A1 can cause Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR; MIM:613743). This is a rare disorder that can present as acute adrenal insufficiency in infancy with elevated ACTH and plasma renin activity and low or absent adrenal steroids. The severest phenotype is loss-of-function mutations associated with prematurity, complete under-androgenisation and severe, early-onset adrenal failure (Kim et al. 2008).

Literature References
PubMed ID Title Journal Year
18182448 Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Kim, CJ, Lin, L, Huang, N, Quigley, CA, AvRuskin, TW, Achermann, JC, Miller, WL

J. Clin. Endocrinol. Metab. 2008
Participants
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Disease
Name Identifier Synonyms
congenital adrenal insufficiency 0050546 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY
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