These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].
    Author: Corrêa RV, Wey JC, Billerbeck AE, Melo KF, Mendonça BB, Wey MV, Arnhold IJ.
    Journal: Arq Bras Endocrinol Metabol; 2005 Feb; 49(1):98-102. PubMed ID: 16544040.
    Abstract:
    Androgen insensitivity syndrome (AIS) is a rare X-linked disorder, caused by mutations in the androgen receptor gene (AR), associated with a variety of phenotypes in 46,XY individuals. We studied two 23 year-old twin-sisters with female social sex referred due to primary amenorrhea, who exhibited bilateral palpable gonads in the inguinal region and a 46,XY karyotype. The uterus was absent in pelvic sonograms. Basal LH levels were elevated (35 and 42 U/L), with normal FSH (7.9 and 7.8 U/L) and high testosterone levels (1330 and 1660 ng/dl). The molecular analysis identified a missense mutation in exon 5 of AR gene that changed a proline to an alanine at position 766 of the protein. Proline 766 is a highly conserved amino acid in the AR of several species and is located in the androgen binding domain.
    [Abstract] [Full Text] [Related] [New Search]