Comprehensive genotyping of Turkish women with hirsutism.

Seher PolatS KaraburguK ÜnlühizarcıM DündarY ÖzkulY K ArslanZ KaracaF Kelestimur

Published in: Journal of endocrinological investigation (2019)

21OHD-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.

Keyphrases

early onset
genome wide
dna methylation
risk factors
gene expression
transcription factor
copy number