Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism

Ann Endocrinol (Paris). 2010 Feb;71(1):14-8. doi: 10.1016/j.ando.2009.12.009. Epub 2010 Jan 12.

Abstract

Moderate forms of 21-hydroxylase deficiency (D21OH-NC), the so-called non-classical or late-onset forms are a frequently reported cause of hyperandrogenism in women [1-5]. The purpose of this collective and synthetic work was to provide the endocrinologist, gynecologist and dermatologist with consensual information so as to detect the maximum cases with acceptable cost-benefit ratio and to define the main lines of optimal patient management, given the data currently available in medical literature.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / drug therapy*
  • Adrenal Hyperplasia, Congenital / epidemiology
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Insufficiency / complications
  • Adrenal Insufficiency / diagnosis
  • Cosyntropin
  • Female
  • Genetic Counseling
  • Glucocorticoids / therapeutic use
  • Hirsutism / etiology
  • Hirsutism / therapy
  • Hormone Replacement Therapy
  • Humans
  • Hyperandrogenism / diagnosis
  • Hyperandrogenism / drug therapy*
  • Hyperandrogenism / enzymology*
  • Hyperandrogenism / epidemiology
  • Hyperandrogenism / genetics*
  • Infertility, Female / etiology
  • Steroid 21-Hydroxylase / genetics

Substances

  • Glucocorticoids
  • Cosyntropin
  • Steroid 21-Hydroxylase