Department of Radiotherapy, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India.
J Cancer Res Ther. 2021 Jan-Mar;17(1):272-275. doi: 10.4103/jcrt.JCRT_302_18.
Androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder which causes alterations in androgen receptor gene leading to hormone resistance, which may present clinically under three phenotypes: complete AIS (CAIS), partial AIS, or mild AIS. The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. We report a case of a 35-year-old woman who was diagnosed with CAIS and presented with malignant transformation of the undescended testis. The histopathology confirmed the presence of seminoma. In this case report, we reviewed the literature which describes the biochemical and endocrinological abnormalities leading to the syndrome. It also highlights the potential for malignant changes of the undescended testes, diagnosis, and therapeutic management.
雄激素不敏感综合征（AIS）是一种罕见的 X 连锁隐性疾病，导致雄激素受体基因发生改变，从而导致激素抵抗，临床上可能表现为三种表型：完全雄激素不敏感综合征（CAIS）、部分雄激素不敏感综合征或轻度雄激素不敏感综合征。其症状范围从表现型正常但精子发生受损的男性到表现型正常但原发性闭经的女性。我们报告了一例 35 岁女性被诊断为 CAIS 并出现未降睾丸恶变的病例。组织病理学证实存在精原细胞瘤。在本病例报告中，我们回顾了描述导致该综合征的生化和内分泌异常的文献。它还强调了未降睾丸恶变的可能性、诊断和治疗管理。
