Genetic Analysis of a Family with 46, XY “Female” Associated with Infertility

Genetic analysis of a family with 46, XY “female” associated with infertility was performed using the conventional G-banding and gene mutation screening. The karyotypes of the two female patients were 46, XY and those of their parents were normal. The mutation screenings in sex-determining region Y (SRY) gene and androgen receptor (AR) gene were carried out. No mutation has been found in the whole coding sequence of SRY gene. The mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene led to the infertility in the patients. The patients showed androgen insensitivity. The clinical phenotype of theirs presented more deleteriously than and different from the one reported before, though they had the same mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene, which was very different from the mutation of 840 CGT (arginine) to TGT (cysteine) at the same codon.