Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.

@article{Yen2005PartialAI,
  title={Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.},
  author={Jui-Lung Yen and Kuang-Huey Chang and Jin-cherng Sheu and Yann-Jinn Lee and Li-Ping Tsai},
  journal={Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi},
  year={2005},
  volume={46 2},
  pages={101-5}
}
Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic normal males with azoospermia. Here, we report an infant of PAIS with a missense mutation at position 2881 (G-->A) in exon 7, encoding substitution of… CONTINUE READING
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