Normal fertility with deletion of sY 84 and sY 86 in AZF a region

Abstract Background Entire deletion of the azoospermia factor a ( AZF a) region commonly results in non‐obstructive‐azoospermia ( NOA ). Although sY 84 and sY 86 are recommended as the first choice of sequence‐tagged sites ( STS s) primers in AZF a region, and their deletions suggest a very high probability of complete deletion of AZF a, extension analysis is now compulsory to identify the deletion pattern. Objectives We aim to verify that extension analysis is relevant in assessing the deletion pattern of AZF by reporting a family in which two normal fertile men were confirmed to have a deletion of sY 84 and sY 86. Materials and methods According to the EAA / EMQN recommendation, AZF evaluation was detected by multiplex polymerase chain reaction ( PCR ) with six STS s, and extension analysis was performed to identify the deletion pattern due to the deletions of sY 84 and sY 86. And the further exploration was conducted to map the breakpoints of deleted DNA fragment. Results Deletion of sY 84 and sY 86 was found in the case with coinstantaneous normal semen analysis. An identically partial deletion pattern of AZF a region with the absence of an hg38Y fragment (12470437~12690385, 219949 bp in total) was found in both the case and his father, which includes three pseudogenes and one non‐coding‐ RNA gene. Discussion and conclusion The extension analysis has permitted the diagnosis of a partial AZF a deletion and confirmed the importance of the extension analysis in order to provide a more accurate prediction for the testis phenotype.