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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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11β-hydroxylase deficiency causes

Introduction

Overview

Overview

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

Causes

Causes

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

Reference

Reference

  1. ↑ 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.
  2. ↑ 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.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]