# Infertility Due to a Novel Variant of a Balanced Y;1 Translocation: A Case Report

## TL;DR

A 26-year-old man with infertility had a rare Y;1 chromosome translocation and dysferlinopathy, causing poor fertilization despite assisted reproductive techniques.

## Contribution

Reports a novel Y;1 translocation variant linked to male infertility and dysferlinopathy, highlighting diagnostic and treatment challenges.

## Key findings

- A novel balanced translocation at 46,X,t(Y;1)(q11.21,p32.1) was identified in an infertile male.
- The patient was a heterozygous carrier of dysferlinopathy (DYSF), contributing to infertility.
- TESA and IVF with ICSI showed poor fertilization and embryo development outcomes.

## Abstract

This report describes a 26-year-old male presenting with primary infertility due to severe cryptozoospermia. Diagnostic evaluation revealed a novel balanced translocation at 46,X, t(Y;1)(q11.21,p32.1) and heterozygote carrier status for dysferlinopathy (DYSF). The patient's hormonal profile was normal, and Y chromosome microdeletion testing was negative. Despite testicular sperm aspiration (TESA) and two rounds of in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI), fertilization and embryo development were poor. This case highlights the challenges in diagnosing and treating male infertility associated with rare Y;1 translocations and emphasizes the need for further research to improve management strategies.