Savaş-Erdeve Şenay, Aycan Zehra, Keskin Melikşah, Çetinkaya Semra, Karaman Ayşe, Apaydın Sema, Çakmakçı Emin
Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.
Clinic of Pediatric Surgery, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.
Turk J Pediatr. 2016;58(6):654-657. doi: 10.24953/turkjped.2016.06.012.
Complete androgen insensitivity syndrome (CAIS) disorder of sex development due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy in CAIS is 5-10% until the age of 25 years. A 17-year-old patient raised as a female presented to our clinic complaining of amenorrhea. She had a history of surgery for inguinal hernia at the age of 2 years. The patient's niece of the same age had been diagnosed with CAIS at our department and gonadectomy had been performed six months ago. She had four other nieces with the same diagnosis. Her external genital appeared phenotypically female. On physical examination, breast development was Tanner stage 5 and pubic hair Tanner stage 2 with scarce axillary hair. The gonad was palpated in the left inguinal region. Chromosome analysis revealed 46, XY and sex determining region Y (SRY) was positive. The patient was diagnosed as CAIS with laboratory and radiology results. The Sexual Orientation and Gender Identity Committee decided on gonadectomy. Histopathological evaluation of the gonad revealed bilateral Sertoli cell tumor and right paratesticular leiomyoma.
完全性雄激素不敏感综合征（CAIS）是一种性发育障碍，由导致46, XY个体雄激素受体功能丧失的突变引起。在25岁之前，CAIS患者发生恶性肿瘤的风险为5% - 10%。一名自幼被当作女性抚养的17岁患者因闭经前来我院就诊。她在2岁时曾接受过腹股沟疝手术。该患者同年龄的侄女在我院被诊断为CAIS，并于6个月前接受了性腺切除术。她还有另外4名被诊断为此病的侄女。其外生殖器在表型上呈女性特征。体格检查发现，乳房发育为坦纳5期，阴毛为坦纳2期，腋毛稀少。在左侧腹股沟区可触及性腺。染色体分析显示为46, XY，性别决定区Y（SRY）呈阳性。结合实验室和影像学检查结果，该患者被诊断为CAIS。性取向和性别认同委员会决定实施性腺切除术。性腺的组织病理学评估显示为双侧支持细胞瘤和右侧睾丸旁平滑肌瘤。
