A novel mutation of AMHR2 in two siblings with persistent Müllerian duct syndrome.

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in people with 46, XY karyotype. PMDS is characterized with normal male phenotype of external genital associated with persistence of Müllerian structures. The 2.5 years old male patient presented due to bilateral undescended testis. Karyotype was 46, XY. The amount of increase in testosterone following human chorionic gonadotropin (hCG) stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized in the orchiopexy surgery. The family reported that the 8 years old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at age 1. Right transverse testicular ectopia was found in the elder brother. For both cases with normal AMH level, AMHR2 gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that is identified for the first time and leads to different phenotypes in two siblings.