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: A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.
    Author: Li Y, Qu S, Li P.
    Journal: Eur Rev Med Pharmacol Sci; 2015 Nov; 19(21):4146-52. PubMed ID: 26592841.
    Abstract:
    OBJECTIVE: Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS. PATIENTS AND METHODS: The diagnoses of the two individuals were confirmed using ultrasonography, hormonal analysis, operative findings, and a histopathological study. Blood samples were collected, and the AR genes were analyzed using PCR and direct sequencing. RESULTS: Clinical and laboratory testing confirmed the two individuals' diagnoses of CAIS. DNA sequencing analysis of the genomes of these patients revealed a novel mutation of c.2107T > C in exon 4 of the AR gene, which results in a transformation of the protein p.S703P. The individuals' mother possesses a heterozygous allele, implying that she is a heterozygous carrier of the mutant gene. CONCLUSIONS: These findings suggested that this previously undescribed novel mutation of the AR gene is the cause of CAIS in this family.
    [Abstract] [Full Text] [Related] [New Search]