Urological management in a pediatric patient with mixed gonadal dysgenesis

混合性性腺发育不全患儿的泌尿外科治疗

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Abstract

Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary management due to the risk of gonadal malignancy.

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