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

Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Authors: Uthara Elsa Mathew, Chankramath S Arun, Viju George, Chinnu Kurian, Rajeev Kadungapuram
Language: English
Open Access status: gold
Estimated APC paid: $930
OpenAlex ID: W4411258600
FWCI:
Cites: 15
Cited by:
Related to: 10