Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

  title={Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations},
  author={P. M. Holterhus and R. Werner and U. Hoppe and J. Ba{\ss}ler and E. Korsch and M. Ranke and H. Doerr and O. Hiort},
  journal={Journal of Molecular Medicine},
  • P. M. Holterhus, R. Werner, +5 authors O. Hiort
  • Published 2005
  • Biology, Medicine
  • Journal of Molecular Medicine
  • Androgen insensitivity syndrome (AIS) is characterized by deficient or absent virilization in 46,XY individuals despite normal or even elevated androgen levels. AIS is usually caused by mutations in the androgen receptor (AR) gene. We aimed at contrasting clinical, biochemical, and molecular genetic characteristics of three patients (P1–P3) with clinically evident partial (P1) and complete (P2, P3) AIS with and without AR gene mutations. AR expression was studied in cultured genital skin… CONTINUE READING
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