PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism

Resumo

Androgen excess is the most common endocrine disorder of adult women. Polycystic ovary syndrome and idiopathic hyperandrogenism (IH) are the first and the second most common androgen disorder, respectively. Women with IH may present with hirsutism, ovulatory dysfunction, infertility and even virilization and masculinization. Mutations in PAPSS2 gene were recently published as a genetic cause of IH. Therefore, the aim of this study was to analyse the PAPSS2 gene sequence in 10 patients with diagnosis of IH.
After PAPSS2 gene Sanger sequencing in ten IH patients, no pathogenic variants were identified. We identified rare heterozygous SNVs in three patients, however they are present in databases with no correlation with androgen excess.