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

@article{Chin2012ACO,
  title={A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation.},
  author={Vivian L. Chin and Sharone Sheffer-Babila and Ting A Lee and Kathryn M. Tanaka and Ping Zhou},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2012},
  volume={25 11-12},
  pages={1145-51}
}
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… CONTINUE READING

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