IMR Press / CEOG / Volume 30 / Issue 4 / pii/2003066

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Case Report

Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia: Case report

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1 Second Division of Endocrinology, "Alexandra" General Hospital, Athens (Greece)
Clin. Exp. Obstet. Gynecol. 2003, 30(4), 263–264;
Published: 10 December 2003
Abstract

Pregnancy rates in women with congenital adrenal hyperplasia - even when adequately treated - are reported to be low. We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal hyperplasia due to a rare combination of P30L/1172N mutations in the CYP21 (21-hydroxylase) gene.

Keywords
Pregnancy
Congenital adrenal hyperplasia
Mutation analysis
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