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.