A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome

J Obstet Gynaecol. 2012 Oct;32(7):707-8. doi: 10.3109/01443615.2012.698335.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Androgen-Insensitivity Syndrome / genetics*
  • Codon, Nonsense*
  • Follicle Stimulating Hormone / blood
  • Humans
  • Karyotyping
  • Luteinizing Hormone / blood
  • Male
  • Phenotype
  • Receptors, Androgen / genetics*
  • Testosterone / blood

Substances

  • Codon, Nonsense
  • Receptors, Androgen
  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone