11β-hydroxylase deficiency causes

Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Mutations in the CYP11B1 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.

Causes

Mutations in the CYP11B1 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.<ref name="pmid7988480">White PC, Curnow KM, Pascoe L (1994). "Disorders of steroid 11 beta-hydroxylase isozymes". Endocr. Rev. 15 (4): 421–38. doi:10.1210/edrv-15-4-421. PMID 7988480.</ref