Case of Inherited Partial AZFa Deletion Without Impact on Male Fertility

Overview

Journal Case Rep Genet

Publisher Wiley

Date 2019 Nov 30

PMID 31781421

Citations 2

Authors

Baiba Alksere

Dace Berzina

Alesja Dudorova

Una Conka

Santa Andersone

Evija Pimane

Sandra Krasucka

Arita Blumberga

Aigars Dzalbs

Ieva Grinfelde

Natalija Vedmedovska

Violeta Fodina

Juris Erenpreiss

Affiliations

Soon will be listed here.

Abstract

Male factor infertility accounts for 40-50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against gene and exclude probably benign microdeletions involving only gene.

Citing Articles

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

Zhao Y, Zhi W, Xiong D, Li N, Du X, Zeng J Front Genet. 2025; 15():1519774.

PMID: 39850494 PMC: 11754199. DOI: 10.3389/fgene.2024.1519774.

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.

Dicke A, Pilatz A, Wyrwoll M, Punab M, Ruckert C, Nagirnaja L Commun Biol. 2023; 6(1):350.

PMID: 36997603 PMC: 10063662. DOI: 10.1038/s42003-023-04714-4.

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region.

Deng C, Zhang Z, Tang W, Jiang H Asian J Androl. 2022; 25(1):5-12.

PMID: 35259786 PMC: 9933971. DOI: 10.4103/aja2021130.

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