Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

@article{Melo2003ClinicalHB,
  title={Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.},
  author={Karla F S Melo and Berenice B Mendonca and Ana Elisa Correia Billerbeck and Elaine F Costa and Marlene In{\'a}cio and Frederico A.Q. Silva and Angela M. O. Leal and Ana Claudia Latronico and Ivo Jorge Prado Arnhold},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 7},
  pages={
          3241-50
        }
}
Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals, ranging from phenotypic women [complete form (CAIS)] to men with minor degrees of undervirilization or infertility [partial form (PAIS)]. We studied 32 subjects with male pseudohermaphroditism from 20 families (9 CAIS, 11 PAIS) with the following criteria for AIS: 46,XY karyotype, normal male basal and human chorionic gonadotropin… CONTINUE READING
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