[Molecular and clinical aspects of androgen insensitivity syndrome]

The syndrome of androgen insensitivity is a genetically determined illness occurring in subjects with a karyotype 46XY and female or male phenotype. The insensitivity to androgens is caused by the mutations in the androgen receptor gene, comprising 8 exons and localized on chromosome X near the centromere, between Xq13 and Xp11. The androgen receptor belongs to a family of steroid hormone receptors which possess common structural features since it comprises six functional regions (domains) of which the DNA binding domain has a characteristic zinc fingers motif. The lack, deficiency or the disturbance in the function of the receptor, results in a set of clinical symptoms which allow to distinguish four distinct clinical forms of the illness: complete and incomplete testicular feminization syndromes, Reifenstein syndrome and the syndrome of male infertility. In this review data from literature were presented and discussed, regarding the structure and action of the androgen receptor in target cells and the significance of the investigations on the structure-function relationship of this receptor in understanding the pathogenesis of the syndrome of androgen insensitivity was emphasized.