46 XY disorder of sex development: case report

Abstract

Ovotesticular disorder of sex development (DSD) is an uncommon disorder. The patients have gonads of both sexes. The purpose of this study is to give information about incidence of ovotesticular disorder of sex development along with its management at Saiful Anwar General Hospital, Malang, Indonesia. We present a case of 46,XY ovotesticular DSD in a 12 year-old child. A 12 year old child had complained of disorder of genitals organ since birth. The patient had a penis, one testis and a vagina-like structure. Patient had karyotype 46 XY. His ultrasound showed testis in the left inguinal canal, right testicle undetected, uterus like organ with hematometra, ovary undetected, and testicle like organ was seen in the left lower abdomen. MRI examination showed undescended testis and there was no uterus and ovaries. Laparoscopy was done to bring the undescended testis down, but the action failed because the tissue was too short. Histological and biopsy of both gonads showed right ovary with fimbriae, and left testicle. He then underwent laparoscopic Fowler Stephen due to short testicular tissue. In this case psychiatric consultation and family support is also needed to make a decision about what to do next. This is a rare and difficult case, the diagnosis and treatment of this disorder needs multidisciplinary experts.