CONGENITAL ADRENAL HYPERPLASIA (CAH): PRESENTATION WITH AMBIGUOUS GENITALIA S

Ambiguous Genitalia – A Case Report

Authors

  • Capt Syed Khawar Ali Chemical Pathology, AFIP Rawalpindi
  • Rizwan Hashim Armed Forces Institute of Pathology Rawalpindi
  • Farooq Ahmad Khan Armed Forces Institute of Pathology Rawalpindi
  • Salman Ali Military Hospital Rawalpindi

Abstract

Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis due to deficiency of enzymatic activities necessary for its synthesis. It is a recessively inherited disorder and has an average incidence of 1:5000, the most common of these is 21-hydroxylase deficiency that accounts for 95% of involved cases1. Females with classical 21-hydroxylase deficiency, being exposed to excess androgens prenatally, are born with virilized external genitalia2,3. By associating the genotype with phenotype will enable the clinicians to predict the clinical outcome in affected patients.

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Published

30-09-2010

Issue

Section

Case Reports

How to Cite

1.
Ali CSK, Hashim R, Khan FA, Ali S. CONGENITAL ADRENAL HYPERPLASIA (CAH): PRESENTATION WITH AMBIGUOUS GENITALIA S: Ambiguous Genitalia – A Case Report. Pak Armed Forces Med J [Internet]. 2010 Sep. 30 [cited 2024 Jul. 25];60(3):482-4. Available from: https://www.pafmj.org/PAFMJ/article/view/1849