Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. (30th December 2016)

• Record Type: Journal Article
• Authors: Thirunavukkarasu, Balamurugan; Mridha, Asit Ranjan; Malhotra, Neena; Chandrashekhara, Sheragaru Hanumanthappa
• Is Part Of: BMJ case reports. Volume 2016
• Publication Date: 2016-12-30
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2016-217229
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.