The significance of Y chromosome microdeletion analysis in subfertile men with clinical variocele

INTRODUCTION The aim of study is determining the cost-effectiveness of detection analysis in the presence of exceptional patients who have mild semen disorders, and beware of unnecessary varicocele repairs; and to ascertain whether patients with clinical varicocele should undergo Y chromosome (Yq) microdeletion analysis as a routine procedure. MATERIAL AND METHODS Varicocele with reflux was diagnosed in 51 male patients with subfertility symptoms upon physical examination (PE), confirmed by scrotal colour-Doppler ultrasound (CDU). After cytogenetic examination, Yq microdeletion analysis was performed on the peripheral blood samples using Promega Y Chromosome Deletion Detection System Version 2. Varicocele repair was performed under general anaesthesia with optical magnification (3-fold) through a subinguinal approach. RESULTS The mean age of the patients was 27.9. Values of semen concentration ranged from 0 to 72 million/ml, motility from 0 to 65% (A + B) and Kruger from 0% to 18%. The PE revealed normal size and consistency in the bilateral testicles. All patients were cytogenetically normal. However, Yq microdeletion was detected in 2 patients, 1 with mild oligoteratozoospermia and partial AZFb deletion (sY121) and the second patient with severe oligozoospermia and partial AZFc deletion (sY254 and sY255), and they were not subjected to varicocelectomy. CONCLUSIONS The routine performance of pre-operative Yq microdeletion analysis in patients with clinical varicocele does not seem to be cost-effective but the omission of patients with mild oligozoospermia would have subjected them to an unnecessary varicocelectomy and/or further ICSI applications and also would have caused the failure of referral for genetic counselling.