Clinical, Cytogenetic, and Histopathologic Profile of a Case Of 46,XY Gonadal Dysgenesis

ABSTRACT Objective: This case report will highlight the importance of histopathologic analysis of the gonads to differentiate ovotesticular disorder of sexual development (OT-DSD) from mixed gonadal dysgenesis. Both disorders may have the same clinical and cytogenetic presentation, but the latter presents high risk for gonadal malignancy, hence there is usually a need for early gonadectomy, while the former has a low risk for malignancy. Therefore OT-DSD patients may have the opportunity for spontaneous pubertal development and fertility with regular tumor surveillance. Methods: We report the case of a 22-year-old patient reared as a male with a 46,XY karyotype diagnosed as OT-DSD by gonadal biopsy. The patient presented with microphallus with chordee, penoscrotal hypospadias, poor virilization, and development of gynecomastia at puberty. Results: Histopathologic examination of the single tubule biopsy of the left gonad showed seminiferous tubules lined by Sertoli cells and Leydig cells in the interstitial space. Biopsy of the right gonad showed an ovary with Graafian follicles and fallopian tubes. There was also a uterus with the endometrium in the proliferative phase. Conclusion: OT-DSD is a rare disorder of sexual development characterized by the presence of both ovarian tissue with mature ovarian follicles as well as testicular tissue with distinct seminiferous tubules. These may present either in the same gonad or separately as opposite-side gonads in the same individual. It is associated with variable genotypes of which the most common karyotype is 46,XX with the 46,XY karyotype found in only 10% of cases. Abbreviations: DSD Disorder of sexual development OT-DSD ovotesticular disorder of sexual development