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Ovotestis in Adolescence: 2 Case Reports.
Jyoti D Chouhan1, David I Chu2, Antoinette Birs3
1Department of Urology, SUNY Downstate Medical Center, Brooklyn, NY.
Urology
|April 17, 2017
Summary
Ovotesticular disorder of sexual development (otDSD) can present in late adolescence in phenotypically male individuals. This rare condition involves the presence of both ovarian and testicular tissue, requiring thorough investigation.
Area of Science:
- Reproductive Endocrinology
- Pediatric Endocrinology
- Genetics
Background:
- Ovotesticular disorder of sexual development (otDSD) is a rare condition characterized by the presence of both ovarian and testicular tissue within the same gonad.
- Diagnosis often occurs in childhood, but presentation in late adolescence is possible, particularly in phenotypically normal males.
Observation:
- Two 15-year-old phenotypically male patients presented with distinct clinical concerns: one with testicular injury, the other with gynecomastia.
- Diagnostic workup included imaging and laboratory tests, leading to surgical exploration.
Findings:
- Patient 1: Unilateral ovotestis, contralateral testis, and SRY-negative 46,XX karyotype.
- Patient 2: Unilateral ovotestis with Müllerian structures (hemi-uterus, fallopian tube), contralateral ovarian tissue, and a 46,XX/47,XXY Klinefelter mosaic karyotype.
Implications:
- Highlights the importance of considering otDSD in adolescent males presenting with seemingly unrelated conditions like trauma or gynecomastia.
- Emphasizes the variability in clinical presentation and karyotypic findings associated with otDSD.
- Suggests that late diagnosis of otDSD in phenotypically normal males is possible and necessitates comprehensive evaluation.