A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation.

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.

Citation

Vivian L Chin, Sharone Sheffer-Babila, Ting A Lee, Kathryn Tanaka, Ping Zhou. A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. Journal of pediatric endocrinology & metabolism : JPEM. 2012;25(11-12):1145-51

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PMID: 23329762

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