Horm Mol Biol Clin Investig. 2025 Dec 1. doi: 10.1515/hmbci-2025-0061. Online ahead of print.
ABSTRACT
OBJECTIVES: To report a rare case of ovotesticular disorder of sex development (OT-DSD) in a phenotypically male adolescent who presented with bilateral gynecomastia.
CASE PRESENTATION: A 15-year-old phenotypically male child presented with progressive enlargement of bilateral breasts for the past 2 years. Clinical examination revealed Tanner stage 4 breast and pubic hair development, unilateral undescended testis, and normal external genitalia. Hormonal evaluation showed low testosterone and raised gonadotropins. Imaging revealed a hypoplastic uterus, fluid-filled vagina, and left-sided ovotestis. Karyotyping confirmed a 46, XX genotype. Clinical, hormonal, and imaging evaluations confirmed the diagnosis of OT-DSD. Because of the established male gender role in his community, he preserved his gender. The patient had liposuction and glandular removal of bilateral breast tissue, as well as left orchidopexy, before being discharged on testosterone replacement treatment.
CONCLUSIONS: Ovotesticular DSD is uncommon and may manifest in late adolescence with gynecomastia rather than ambiguous genitalia. Clinicians should consider OT-DSD in adolescents who presented with bilateral gynecomastia. Early diagnosis, karyotyping, and multidisciplinary management are crucial to optimize long-term outcomes.
PMID:41312604 | DOI:10.1515/hmbci-2025-0061
