Case Report A Rare Case of 46, XX Ovotesticular Disorder of Sex Development (DSD)

Abstract

Background: Ovotesticular disorder of sex development (ovotesticular DSD) is a very rare condition in which an individual is born with internal gonads of both sexes, such as ovaries, testes, or ovotestes. Objective: To report a rare case of 46,XX/46,XY ovotesticular DSD in a 16-year-old adolescent presenting with menstruation through the urinary meatus. Method: Case report including history taking, physical examination, karyotype analysis, and multidisciplinary management involving urology, gynecology, endocrinology, pediatrics, and psychiatry. Result: The patient presented with a penis, undescended left testis, and a perineal opening resembling a vagina. Until the age of 14, the patient was raised as a boy. At puberty, breast development and pubic hair appeared, followed by irregular menstruation and painful hematuria. Physical examination revealed normal sexual hair distribution, incomplete vaginal structure beneath the scrotum, and hypospadias. Gonads were located on the right labioscrotal fold. Karyotype analysis showed 46,XY (85%) / 46,XX (15%). A multidisciplinary team provided medical, surgical, and psychosocial care. Conclusion: Gender assignment as male was made by a multidisciplinary team after evaluating gender identity and role, and considering the patient’s own wishes. Comprehensive multidisciplinary management is crucial for all DSD patients.