Comprehensive genotyping of Turkish women with hirsutism

Hirsutism is a medical sign rather than a disease affects 5–8% of women of reproductive age

S. Polat

2019

Scholarcy highlights

  • Hirsutism is a medical sign rather than a disease affects 5–8% of women of reproductive age
  • The primary aim of the study is to examine the physical properties of the three genes and to make a detailed comparison of the mutations with the clinical data to contribute the etiology of hirsutism
  • 122 women admitted to the Endocrinology Clinic at Erciyes University Hospital with hirsutism were enrolled in the study between 2013-2014
  • Protein-encoding exons, exon-intron boundaries of CYP21A2, CYP11B1 and HSD3B2 genes were analyzed via state-of-the-art genetic studies
  • High heterozygous mutation rates were observed in CYP11B1 gene and CYP21A2 promoter region
  • CYP11B1 and HSD3B2 deficiencies were not prevalent in Turkish women with hirsutism despite the existence of higher heterozygous mutation rate in CYP11B1

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