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, sa.5, ss.205-208, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 117 Sayı: 5
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1055/s-2008-1081209
  • Dergi Adı: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.205-208
  • Anahtar Kelimeler: 21-hydroxylase deficiency, CYP 21 gene, hyperandrogenism
  • Erciyes Üniversitesi Adresli: Evet

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.