Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population.

Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases.

In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3.1 % of cases; additional non EAA markers that would contribute significantly to screening are sY746, sY82, sY121, sY128, sY130, sY143, sY145 & sY160.

The frequency of Yq microdeletions is lower in Indian population as compared to Western counterparts. There is no major association of Yq microdeletions with seminal parameters or cause of infertility. Clinically it will be necessary to offer Yq microdeletion testing to all the classes of infertile men. The EAA markers may not be adequate to detect microdeletions in Indian infertile men.