A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.

ABSTRACT:

Introduction

Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region.

Methods and results

Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.21 (14,607,372-14,637,973), 30.6 kb; AZFc: Yq11.223-11.23 (25,848,831-27,120,665), 1.3 M for the father; and Yq11.223-11.23 (25,505,378-27,120,665), 1.6 M for the son. Notably, although the son's sperm

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC11754199 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature