Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

@article{Ogata2001UndermasculinizedGI,
  title={Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.},
  author={Tsutomu Ogata and Koji Muroya and Tomohiro Ishii and Yu Suzuki and Teruhiro Nakada and Isoji Sasagawa},
  journal={Clinical endocrinology},
  year={2001},
  volume={54 6},
  pages={835-8}
}
We report an 11-year-old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadias with chordee, and underwent urethroplasty at 4 years of age. At 11 years of age, a gonadotropin releasing hormone (GnRH) test yielded a relatively high leutinizing hormone (LH) response (0.7-->20.4 IU/l) and a relatively low follicle-stimulating hormone (FSH) response (1.7-->4.8 IU/l), and an human… CONTINUE READING
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