11β-hydroxylase deficiency causes

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 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.

Causes

Mutations in the CYP11B1 gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.^[1]^[2]

Reference

↑ Hannah-Shmouni F, Chen W, Merke DP (2017). “Genetics of Congenital Adrenal Hyperplasia”. Endocrinol. Metab. Clin. North Am. 46 (2): 435–458. doi:10.1016/j.ecl.2017.01.008. PMID 28476231.
↑ 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.

Overview