Case report highlights seminoma diagnosis in a 33-year-old with undescended testis and false hermaphroditism, suggesting genetic implications.
Disorders of sex development or hermaphroditism are a condition associated with a discrepancy between genetic, gonadal, and phenotypic sex. Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. Typical features are cryptorchidism and the presence of underdeveloped fallopian tubes, uterus or upper vagina in a male with karyotype 46, XY. Over the past 50 years, about 200 cases of persistent Müllerian duct syndrome have been reported. The article describes an observation of a 33-year-old patient with bilateral cryptorchidism, testicular neoplasm, and false hermaphroditism revealed during the examination of surgical material. Macroscopic and microscopic pictures are presented, including those using immunohistochemical methods. The results of a molecular genetic study of the surgical material are given. After all the examinations, the patient was diagnosed with: Typical seminoma of the right undescended testicle, pT2. False hermaphroditism,
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Tsaregorodtseva et al. (2025) studied this question.
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