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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.87327

Authors: Somer Magnuson, Kasey Doney, Logan B Wesemann, Kelli Gross

Institutions: Rocky Vista University, University of Utah, University of Utah Health Care

Language: English

Topic: Sperm and Testicular Function

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4412047862