Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report

This case report describes an extremely rare instance of seminoma in a 33-year-old phenotypic female with SRY-negative 46,XX testicular disorder of sex development (DSD), presenting uniquely as acute abdomen due to gonadal torsion. The patient exhibited ambiguous genitalia, primary amenorrhea, and male-pattern androgenic alopecia. Emergency surgery revealed a seminoma in the right gonad, confirmed by pathology and chromosomal analysis showing a 46,XX karyotype without SRY or Y-chromosome sequences. This case underscores the importance of considering DSD in adults with atypical genitalia and primary amenorrhea, necessitating comprehensive karyotype and pathological evaluations. A multidisciplinary approach is essential for managing such rare presentations to address oncologic, endocrine, and psychological needs effectively.