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, cilt.117, ss.205-208, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 117 Konu: 5
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1055/s-2008-1081209
  • Dergi Adı: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
  • Sayfa Sayısı: ss.205-208

Özet

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.