Discordant Gender Identity and Surgical Goals in Two Adults with Comparable Ambiguous Genitalia: Two Case Reports from a Resource Limited Setting

Abstract

Disorders of sex development (DSD) are rare congenital conditions characterized by discordance among chromosomal, gonadal, and phenotypic sex. Adult presentation of ambiguous genitalia is not uncommon, particularly in low-resource settings where delayed diagnosis, limited access to specialized care, sociocultural stigma, and financial barriers constrain evaluation and management. We present two adults with remarkably comparable external genital appearances but profoundly different gender identities, social roles, treatment interests, and therapeutic goals. The two patients, both aged 25 years, presented to our institution with comparable ambiguous external genitalia but different gender roles and concerns. Case one is a phenotypic female presenting with an enlarged clitoris and partially obstructed vaginal introitus, causing her severe psychosocial distress and inability to engage in sexual intercourse. She had normal female secondary sexual characteristics and regular menstruation. Imaging demonstrated normal internal female reproductive organs. Due to financial limitations, karyotyping was not performed. She desired vaginal opening and removal of the penile-like structure. She underwent examination under anesthesia, introital reconstruction, and clitoral reduction surgery, with good postoperative functional and psychological outcomes. Case two is an individual raised and socially recognized as male who presented with progressive abdominal distension and chronic pelvic pain. Despite a masculine gender identity and virilized phenotype, the patient reported menstruation since adolescence. Imaging demonstrated multiple abdominal masses suspicious for malignancy. He was desirous of the removal of the uterus to eliminate menstruation, which was a major source of his distress, irrespective of whether he would sexually perform as a male or not. Exploratory laparotomy revealed large intra-abdominal tumors, and histopathology confirmed dysgerminoma. The patient is currently undergoing chemotherapy. These cases highlight the complexity of adult DSD presentation in resource-constrained settings and underscore the importance of individualized, patient-centered management that prioritizes gender identity, psychosocial well-being, reproductive goals, and informed consent. The report further emphasizes the ethical and clinical challenges posed by limited diagnostic capacity and delayed presentation.