Ambiguous genitalia in a male patient misidentified as female, leading to inappropriate circumcision: A rare case report

男性患者生殖器畸形被误诊为女性,导致不恰当的包皮环切术:一例罕见病例报告

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Abstract

Ambiguous genitalia, a rare condition involving external genitalia that do not conform to typical male or female presentations, is often indicative of disorders of sexual development (DSD). A 12-year-old child from Somalia was initially assigned female due to ambiguous genitalia, including an enlarged clitoral structure and scrotal sac that the family mistakenly thought was a labia majora. This led to an inappropriate circumcision, mistaking the penis for a clitoris. The child was raised as female until secondary male sexual characteristics appeared at age 11, prompting medical evaluation. Diagnostic investigations confirmed the presence of male gonads and a typical male anatomical configuration. This case underscores the importance of early and comprehensive diagnostic evaluation to prevent misdiagnosis and inappropriate interventions. Improved healthcare awareness, access to specialized care, and a multidisciplinary approach to managing DSDs are crucial to prevent physical and psychological harm.

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