Ambiguous genitalia without clitoromegaly in a girl with classic congenital adrenal hyperplasia

Research output: Contribution to journalArticle

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal-recessive disorder characterized by a defect in cortisol biosynthesis with >95% of cases being the result of 21-hydroxylase deficiency. Girls affected with classic 21-hydroxylase deficiency usually present at birth with ambiguous genitalia, including clitoromegaly, labial fusion, and a urogenital sinus. We report a female infant with classic CAH secondary to 21-hydroxylase deficiency in whom clitoromegaly was absent despite other signs of androgen excess.

Original languageEnglish (US)
Pages (from-to)311-312
Number of pages2
JournalEndocrinologist
Volume16
Issue number6
DOIs
StatePublished - Nov 1 2006

Keywords

  • Ambiguous genitalia
  • Clitoromegaly
  • Congenital adrenal hyperplasia

ASJC Scopus subject areas

  • Endocrinology

Fingerprint Dive into the research topics of 'Ambiguous genitalia without clitoromegaly in a girl with classic congenital adrenal hyperplasia'. Together they form a unique fingerprint.

  • Cite this