Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India
BMJ Case Rep. 2020 Jul 7;13(7):e235501. doi: 10.1136/bcr-2020-235501.
Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.
完全性性腺发育不全（CGD）或斯韦尔综合征的特征是表型女性 46，XY 核型伴有性幼稚症。存在性腺发育不全和 Y 染色体物质的患者发生性腺母细胞瘤和生殖细胞瘤的风险很高。一名 16 岁女孩出现进行性男性化、乳房发育不良和原发性闭经。评估时，发现其血清睾酮处于男性范围、大腹盆腔肿块病变、升高的生殖细胞肿瘤标志物和 46，XY 核型。她接受了左性腺肿块和右索状性腺的手术切除，组织病理学分别显示为生殖细胞瘤和性腺母细胞瘤。因此，诊断为 46，XY CGD 背景下的男性化生殖细胞肿瘤。本病例突出了 46，XY CGD 的罕见表现，以及在患有这种罕见疾病的患者中需要考虑早期预防性性腺切除术。如果此前表现为 CGD 的表型女性出现男性化，应怀疑存在生殖细胞瘤/性腺母细胞瘤。
