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

Abstract

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 interstitia...