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

Zeina Nabhan, Richard C. Rink, Erica Eugster

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

Fingerprint

Disorders of Sex Development
Congenital Adrenal Hyperplasia
Lip
Androgens
Hydrocortisone
Parturition
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Keywords

  • Ambiguous genitalia
  • Clitoromegaly
  • Congenital adrenal hyperplasia

ASJC Scopus subject areas

  • Endocrinology

Cite this

Ambiguous genitalia without clitoromegaly in a girl with classic congenital adrenal hyperplasia. / Nabhan, Zeina; Rink, Richard C.; Eugster, Erica.

In: Endocrinologist, Vol. 16, No. 6, 11.2006, p. 311-312.

Research output: Contribution to journalArticle

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