A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS

@article{Giwercman2004ANM,
  title={A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS},
  author={Y. Giwercman and S. Ivarsson and J. Richthoff and K. B. Lundin and A. Giwercman},
  journal={Hormone Research in Paediatrics},
  year={2004},
  volume={61},
  pages={58 - 62}
}
  • Y. Giwercman, S. Ivarsson, +2 authors A. Giwercman
  • Published 2004
  • Biology, Medicine
  • Hormone Research in Paediatrics
  • Background: An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. Methods: In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a phenotypically normal man, who in childhood had bilateral cryptorchidism, the AR was directly sequenced. Seven additional men with… CONTINUE READING
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