Chin Vivian L, Sheffer-Babila Sharone, Lee Ting A, Tanaka Kathryn, Zhou Ping
Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
J Pediatr Endocrinol Metab. 2012;25(11-12):1145-51. doi: 10.1515/jpem-2012-0135.
We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel missense androgen receptor gene mutation resulting in serine-to-isoleucine change at position 703 in exon 4 in the ligand-binding domain. The interesting features of this case include a persistence of Müllerian derivatives, Sertoli cell adenoma, Tanner III pubic hair, and a normal bone mineral density. These features are not typically described in CAIS. This novel mutation associated with a unique clinical presentation serves to significantly enrich the literature on this rare and fascinating disorder of androgen insensitivity syndrome.
我们报告了一例14岁原发性闭经的女孩，其具有完全雄激素不敏感综合征（CAIS）的表型和激素特征，检测发现雄激素受体基因发生一种新的错义突变，导致配体结合域第4外显子第703位丝氨酸变为异亮氨酸，该突变检测呈阳性。该病例的有趣特征包括苗勒管衍生物持续存在、支持细胞腺瘤、坦纳Ⅲ期阴毛以及正常的骨矿物质密度。这些特征在CAIS中通常未被描述。这种与独特临床表现相关的新突变显著丰富了关于这种罕见且引人关注的雄激素不敏感综合征疾病的文献。
