AZF gene microdeletions: case series and literature review.

OBJECTIVE Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence. MATERIAL AND METHODS Retrospective study of 11 patients with diagnosis of azoospermia or oligozoospermia and the presence of AZFa, AZFb, AZFc microdeletions or any combination of them. RESULTS Microdeletions of AZFc region were found in 45% of cases, AZFa in 33% and a 10% showed a deletion of the three regions (a,b and c). 91% of them demonstrated azoospermia with low testicular volume in 62,5% cases. CONCLUSION Microdeletions of AZF regions are associated with azoospermia and a low expectation of sperm retrieval in testicular biopsy. On the other hand, they seem not related with significative modifications on the hormone profile.