Androgen insensitivity syndrome

@article{Hughes2012AndrogenIS,
  title={Androgen insensitivity syndrome},
  author={I. Hughes and J. D. Davies and Trevor I Bunch and V. Pasterski and K. Mastroyannopoulou and J. Macdougall},
  journal={The Lancet},
  year={2012},
  volume={380},
  pages={1419-1428}
}
  • I. Hughes, J. D. Davies, +3 authors J. Macdougall
  • Published 2012
  • Biology, Medicine
  • The Lancet
  • Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor--a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of… CONTINUE READING
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