Comprehensive genotyping of Turkish women with hirsutism

Conclusion21OHD-NCAH prevalence was determined to be ~4%. Unexpectedly, 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.

Source: Journal of Endocrinological Investigation - February 27, 2019 Category: Endocrinology Source Type: research