ArticleJCEM case reports2025
An Unusual and Late Presentation of 46, XY Ovotesticular Difference of Sex Development.
Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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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.
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