Case report: A non-obstructive azoospermia patient with heat shock factor-2 mutation

Area of Science:

• Genetics
• Reproductive Medicine
• Human Physiology

Background:

• Infertility affects approximately 15% of the global population.
• Non-obstructive azoospermia (NOA) represents a severe form of male infertility with unclear genetic underpinnings.
• Previous research identified genetic factors like SNPs and structural variants associated with NOA.

Observation:

• A 27-year-old man with primary infertility presented with a sperm concentration of 0/mL.
• Comprehensive diagnostic examinations confirmed the diagnosis of NOA.
• The patient underwent artificial insemination by donor (AID), resulting in a healthy child.

Findings:

• Next-generation sequencing revealed a novel heterozygous deletion-insertion variation (c.326_326delinsGGAAGGTGAGCTATTGT) in exon 3 of the HSF2 gene.
• Sanger sequencing confirmed this pathogenic variant in the patient.
• The identified HSF2 mutation is novel and linked to NOA.

Implications:

• The discovery of this HSF2 gene mutation provides a potential genetic explanation for NOA in the studied population.
• This finding contributes to understanding the genetic mechanisms of male infertility.
• Further research into HSF2's role in spermatogenesis may reveal new therapeutic targets.