ACTA ENDOCRINOLOGICA (BUC)

Context. Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). In milder forms of AIS, male infertility appears as primary or even sole symptom. Identification of such mutations is fundamental for accurate diagnosis and for appropriate genetic counseling.\r\nObjectives. To determine the prevalence of known point mutations in the AR gene causing male infertility in Syrian\r\nazoospermic men.\r\nDesign. 15 known point mutations in the AR gene were screened in a cohort of 110 Syrian infertile men.\r\nSubjects and methods. The study involved 173 Syrian infertile men suffering from non-obstructive azoospermia.\r\nChromosome aberrations and Y microdeletions were excluded in 110 patients, which were further tested for point mutations in the AR gene by real time PCR or DNA sequencing.\r\nResults. The prevalence of AR mutations in our cohort was 3.6% (4/110). We found two patients with the Ala474Val\r\nmutation and one patient bearing the Pro390Ser mutation. Furthermore, one patient had a new mutation, del 57Leu,\r\ndescribed for the first time in an infertile man. None of the 50 fertile Syrian men had this mutation, indicating that it is not a sequence polymorphism in the Syrian population.\r\nConclusion. The del 57Leu mutation in the AR gene is a possible cause of idiopathic male infertility. Furthermore, the Ala474Val and Pro390Ser mutations (previously found in several infertile men in Italy) might be significant markers for male infertility in Mediterranean populations.