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A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.

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.