男性假两性畸形合并腹腔精原细胞瘤1例并 文献复习

Male Pseudohermaphroditism Complicated with Abdominal Seminoma: A Case Report and Literature Review

摘要: 本文报道了一例53岁男性假两性畸形合并腹腔精原细胞瘤的罕见病例。患者社会性别为女性，因下腹隐痛及盆腔包块入院。查体示女性体态但原发闭经、子宫缺如。术后病理确诊为“右侧卵巢”精原细胞瘤，结合免疫组化及临床特征，最终确诊为完全性雄激素不敏感综合征(CAIS)合并腹腔精原细胞瘤(I期)。文章分析了CAIS的发病机制及恶变风险，指出异位腹腔睾丸因环境温度异常等因素易致生殖细胞恶变。临床治疗建议切除性腺以预防癌变，并根据肿瘤分期辅以放化疗，强调了多学科协作在性发育异常疾病诊疗中的重要性。

Abstract: This report describes a rare case of a 53-year-old female-reared patient with male pseudohermaphroditism and an intra-abdominal seminoma. Admitted for lower abdominal pain and a pelvic mass, she presented with a female phenotype, primary amenorrhea, and uterine agenesis. Pathological and immunohistochemical evaluations confirmed a stage I intra-abdominal seminoma, leading to a definitive diagnosis of complete androgen insensitivity syndrome (CAIS). The article highlights that ectopic intra-abdominal testes are highly susceptible to malignant transformation due to abnormal body temperature. Clinical management should include prophylactic gonadectomy and stage-appropriate adjuvant therapy, underscoring the critical role of multidisciplinary care in disorders of sex development (DSD).