An Unusual and Late Presentation of 46, XY Ovotesticular Difference of Sex Development

Ovotesticular difference of sex development (OT-DSD) is a rare condition encompassing a broad spectrum of phenotypic variations. We describe a 67-year-old man who presented with complaints of poor urinary stream and hesitancy for the past 6 months. He had normal pubertal development, libido, and erection, but has been experiencing sexual dysfunction and reduced energy over the last 2 years. Physical examination revealed bilateral cryptorchidism with no other genital ambiguities. Laboratory evaluation showed a 46, XY karyotype with hypergonadotropic hypogonadism, and imaging revealed müllerian structures with abdominal gonads and a large pelvic mass arising from the right gonad, abutting the bladder. He underwent laparoscopic right gonadectomy and biopsy of the left gonad, which revealed bilateral ovotestes and a serous cystadenofibroma arising from the right ovotestis. Given the low risk of malignancy in OT-DSD, early distinction from other differences of sex development could facilitate the preservation of the gonads, allowing for spontaneous puberty and sustained sexual function.