# Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report

## TL;DR

A man with infertility was found to carry a rare chromosome instability trait linked to a genetic syndrome, highlighting the need for genetic counseling in such cases.

## Contribution

This case report highlights the incidental discovery of a PCS carrier during male infertility diagnosis.

## Key findings

- The patient had nonobstructive azoospermia and showed PCS in 40.5% of analyzed cells.
- PCS carriers may have an increased risk of having children with PCS syndrome if both parents are carriers.
- Genetic counseling is recommended before proceeding with invasive fertility treatments for PCS carriers.

## Abstract

Premature chromatid separation (PCS)/mosaic variegated aneuploidy (MVA) syndrome is a rare chromosome instability syndrome. This syndrome is inherited in an autosomal recessive pattern. Although heterozygous carriers of a monoallelic mutation reportedly have a normal phenotype, PCS-positive cells are found at a higher rate in such carriers than in the general population. We herein report a case in which a PCS carrier was incidentally diagnosed during investigation of male infertility. A diagnosis of nonobstructive azoospermia was made, and chromosome analysis revealed the PCS trait in 81 of 200 cells (40.5%), indicating that the patient was a PCS carrier. PCS carriers are not uncommon, and if both members of a couple are carriers, there would be a 25% likelihood of the child presenting with PCS syndrome. Therefore, a clinical psychological approach that includes genetic counseling should be considered before proceeding to microsurgical testicular sperm extraction.