Nonclassic congenital adrenal hyperplasia and the heterozygote carrier

Sara Ahmadi, Saadia Alvi, Randall J. Urban

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

This article discusses the difficulty of differentiating three causes of adult androgen excess including nonclassic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, polycystic ovarian syndrome and heterozygote carrier of CYP21 mutations based on clinical findings. It also reviews the screening modalities that discriminate patients with nonclassic congenital adrenal hyperplasia and the heterozygote carrier of CYP21 mutations from the normal population. In addition, the current management of hyperandrogenism and ovulatory dysfunction in these patients is described.

Original languageEnglish (US)
Pages (from-to)239-246
Number of pages8
JournalExpert Review of Endocrinology and Metabolism
Volume8
Issue number3
DOIs
StatePublished - May 1 2013

Keywords

  • 21-hydroxylase deficiency
  • diagnosis
  • heterozygote carrier
  • hyperandrogenism
  • nonclassic congenital adrenal hyperplasia
  • treatment

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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