An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency


KÜÇÜKEMRE-AYDıN B., ÖĞRENDIL-YANAR Ö., BILGE I. , Baş F. , POYRAZOĞLU Ş. , YıLMAZ A. , ...More

TURKISH JOURNAL OF PEDIATRICS, vol.57, no.3, pp.277-281, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 3
  • Publication Date: 2015
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded, Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.277-281
  • Keywords: 17 alpha-hydroxylase/17,20-lyase deficiency, CYP17A1 gene, disorders of sex development, DISORDERS, EXPERIENCE, MUTATIONS, SEX

Abstract

The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17 alpha-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17 alpha-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism.