• Duncheng Shi, Changjian Chen, Huagang Huang, Jingyu Tian, Jianfang Zhou, and Shihua Jin.
• Department of Urology, Xifeng People's Hospital, Huayuan East Road, Xifeng County, Guizhou Province, PR China.
• Medicine (Baltimore). 2022 Apr 29; 101 (17): e29117e29117.

RationaleKlinefelter syndrome (KS) is a sex differentiation syndrome that occurs in men and is characterized by the 47XXY genotype. An association between KS and cancer has also been reported. The occurrence of seminoma of the prostate in KS has not been reported in the literature to date. Primary seminoma should be included in the differential diagnosis of prostate neoplasms in patients with KS.Patient ConcernsA 39-year-old man presenting with urinary retention was admitted to our hospital. Physical examination revealed sparse pubic hairs, atrophic testes, and an underdeveloped penis. Hormonal examination revealed significantly lowered serum testosterone levels and markedly higher follicle-stimulating hormone levels. A chromosomal examination was performed. Computed tomography and magnetic resonance imaging imaging showed a neoplasm in the left lobe of the prostate, and immunohistochemical examination of a transrectal needle biopsy of the prostate was performed.DiagnosesChromosomal examination was exhibited a 47 XXY genotype. Histopathology and of Immunohistochemistry of the transrectal needle biopsy specimen confirmed a seminoma. No other neoplasm was found on systemic examination; therefore, the patient was diagnosed with primary prostate seminoma and Klinefelter syndrome.InterventionsThe patient refused any treatment except catheterization because of religious reason.OutcomesThe patient died 2 years later.LessonsPrimary seminoma should be included in the differential diagnosis of neoplasms of the prostate in patients with KS. Transrectal ultrasound-guided prostate needle biopsy is essential for the diagnosis of prostate neoplasms, and cisplatin-based chemotherapy remains the primary treatment for seminoma.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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