Ben Nacef Imen

Molecular study of the AR gene in patients with AIS Ben Nacef Imen

Androgen insensitivity syndrome (AIS) is the result of dysfunction of the androgen receptor causing a deficit in the action of these hormones in target organs. Mutations in the AR gene that codes for this receptor cause varying degrees of androgen receptor dysfunction which is subsequently expressed as a mismatch between phenotype and genotype. Androgen insensitivity syndrome is the most common etiology of male pseudohermaphroditism. The objective of this work is to search for molecular abnormalities of the AR gene in 12 Tunisian patients with ASI and to study the clinical-genetic correlation in them. We looked for mutations in the AR gene by the direct sequencing method from PCR products. Complete genotype determination was possible in 5 of 12 patients studied. The sequencing made it possible to identify two new mutations not reported in the literature as well as three previously described mutations.