The human Y chromosome is essential for human sex determination and male germ cell development and maintenance. In 1996, Vogt et al. identified three recurrently deleted regions in Yq11 termed the azoospermia factor (AZF). The AZF region is subdivided into three non-overlapping sub-regions called AZFa, AZFb and AZFc and microdeletion in these regions is the most important etiology of male infertility. AZF deletions are known to be associated with a various spermatogenic alteration. Microdeletions in AZFa lead mostly to Sertoli cell-only syndrome; mutations in AZFb provoke an interruption in meiosis I, and mutations in AZFc result in hypospermatogenesis, progressing to oligospermia or severe azoospermia. The development of ICSI has allowed patients with severe oligozoospermia to have children. However, the inheritance of Y chromosome microdeletions from father to son through ICSI is a risk of concern. Our study aimed at determining the consequence of AZFc microdeletion in infertile men. We followed the patients for the result of ART.Retrospective data were gathered from patient’s records. From 404 men who were consulted for infertility from 2009 to 2014 at Royan institute, 226 men (56%) had AZFc microdeletion and enrolled in this study. Semen analysis was performed according to the WHO manual for all patients. Conventional chromosomal karyotype analysis was conducted to analyze chromosome abnormalities via peripheral blood. Karyotype analysis was available for 162 of 226 (72%) patients with AZFc deleteion. Abnormal karyotypes were found in 11 cases (6.8%). Ten patients with abnormal karyotype were azoospermic and one of them had sever oligozoospermia. From 151 cases with normal karyotype, 86 patients were azoosperm, 44 patients oligozoosperm, 20 patients showed rarely sperm in their spermogram and 1 patient had normal sperm concentration. AZF deletion provides essential information for genetic counseling and also in prediction of surgical sperm retrieval.
Materials and methods