Department of Endocrinology, Medical College and Hospital, Kolkata, West Bengal, India.
Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India.
J ASEAN Fed Endocr Soc. 2023;38(1):108-113. doi: 10.15605/jafes.038.01.15. Epub 2023 Mar 10.
Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old Indian male with Swyer syndrome presenting with primary amenorrhoea and with an earlier diagnosis of a malignant dysgerminoma in the right ovary.
完全型性腺发育不全伴 46,XY 核型是一种临床病症,其特征为表型女性个体中缺乏睾丸组织,但存在典型的 Müllerian 结构。该病症表现为原发性闭经或青春期延迟。最终,恶性肿瘤可能会发生。我们报告了一例 16 岁的印度男性患有 Swyer 综合征,表现为原发性闭经,并在右侧卵巢中较早诊断出恶性生殖细胞瘤。