The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism

Kelestimur, F.; Everest, Hatice; DÜNDAR, MUNİS; TANRIVERDİ, Fatih; White, C.; Witchel, S.

doi:10.1055/s-2008-1081209

The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism

Kelestimur F., Everest H., DÜNDAR M., TANRIVERDİ F., White C., Witchel S. F.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, vol.117, no.5, pp.205-208, 2009 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 117 Issue: 5
Publication Date: 2009
Doi Number: 10.1055/s-2008-1081209
Journal Name: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.205-208
Keywords: 21-hydroxylase deficiency, CYP 21 gene, hyperandrogenism
Erciyes University Affiliated: Yes

Abstract

Objective: The congenital adrenal hyperplasias (CAH) are a group of autosomal recessive disorders due to decreased activity of the enzymes responsible for cortisol biosynthesis. Since CYP21 gene mutations in non-classical CAH (NC-CAH) due to 21-hydroxylase deficiency among Turkish women have not been well characterized, we performed CYP21 genotype analyses to determine the frequency of specific Mutations in our population.