Magnuson Somer, Doney Kasey, Wesemann Logan B, Gross Kelli
Urology, Rocky Vista University College of Osteopathic Medicine, Ivins, USA.
Urology, University of Utah Health, Salt Lake City, USA.
Cureus. 2025 Jul 5;17(7):e87327. doi: 10.7759/cureus.87327. eCollection 2025 Jul.
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.
本报告描述了一名26岁男性，因严重的隐匿性无精子症导致原发性不育。诊断评估发现了一种新的平衡易位，核型为46,X, t(Y;1)(q11.21,p32.1)，且为dysferlinopathy（DYSF）杂合子携带者状态。患者的激素水平正常，Y染色体微缺失检测为阴性。尽管进行了睾丸精子抽吸术（TESA）以及两轮体外受精（IVF）并结合卵胞浆内单精子注射（ICSI），但受精和胚胎发育情况不佳。该病例凸显了诊断和治疗与罕见的Y;1易位相关的男性不育症所面临的挑战，并强调需要进一步研究以改进管理策略。
