Thirunavukkarasu Balamurugan, Mridha Asit Ranjan, Malhotra Neena, Chandrashekhara Sheragaru Hanumanthappa
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi, India.
BMJ Case Rep. 2016 Dec 30;2016:bcr2016217229. doi: 10.1136/bcr-2016-217229.
Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Inguinal hernia is the commonest mode of presentation of CAIS in childhood and various screening methods are available during the initial herniorrhaphy procedure. Controversy exists in the need to screen and the methods of screening in all cases of premenstrual girls with inguinal hernia. Abnormal observation in a suspicious case requires karyotyping for confirmation. We describe a case of CAIS with simultaneous presence of seminoma and a Sertoli cell adenoma in a 17-year-old patient who had a history of surgery for inguinal hernia at age of 5 years.
雄激素不敏感综合征是一种罕见的性发育障碍，其临床表现从轻微的男性不育到明显的完全雄激素不敏感综合征（CAIS）伴女性表型不等。CAIS通常在青春期或青少年期因原发性闭经进行检查时被诊断出来。未确诊的患者其隐匿睾丸发生恶性肿瘤的风险增加。腹股沟疝是儿童期CAIS最常见的表现形式，在初次疝修补手术过程中有多种筛查方法可用。对于所有患有腹股沟疝的青春期前女孩，是否需要筛查以及筛查方法存在争议。可疑病例中的异常观察结果需要进行染色体核型分析以确诊。我们描述了一例17岁患者的CAIS病例，该患者同时存在精原细胞瘤和支持细胞瘤性腺瘤，其在5岁时曾因腹股沟疝接受手术治疗。
