Hyperandrogenism is characterized by increased androgen production or action. Women with hyperandrogenism may present hirsutism, ovulatory dysfunction, infertility and even virilization and masculinization. The etiology may range from ovarian and adrenal hormonal dysfunction to ovarian and adrenal tumors. However, some female patients may remain with unidentified etiology and are classified as idiopatic hyperandrogenism (IH). Mutations in the steroidogenic genes HSD3B2 and SULT2A1 and also in the cytochrome b5 (CYB5A) are associated with IH. Mutations in PAPSS2 gene were recently published as a genetic cause of IH. Thus, the aim of this study was the molecular investigation of PAPSS2 gene in 9 female with IH.