4号环状染色体致成年男性生育障碍一例

doi:10.12280/gjszjk.20250348

摘要/Abstract

摘要：

4号环状染色体是一种罕见且临床表现存在显著异质性的染色体结构异常。报告1例合并小头畸形、小颌畸形、钩形鼻、身材矮小、先天性心脏缺陷、无精子症等多发畸形的成年男性患者，该患者因膀胱恶性肿瘤拟手术治疗，术前要求生育力保存，但多次精液检查均提示无精子症，后行经皮睾丸精子抽吸术显示双侧睾丸未见精子。其病理检查见约40个生精小管、少量精子细胞和极个别精子，Johnsen评分8分。染色体核型分析：mos 46,XY,r(4)(?p16.3?q35)[94]/46,XY[6]。建议其在行膀胱肿物切除术同时显微取精并冻存精子，但最终患者因恶性肿瘤及其他个人原因放弃生育力保存，仅行了肿瘤根治术。该类患者通常表现为生长发育迟缓、生育力异常等多系统功能障碍，需尽早完善染色体G显带核型检查及分子水平相关检查，确诊后应积极行遗传咨询，并及时借助辅助生殖技术以更好地实现优生优育。

关键词: 环状染色体, 染色体, 人, 4对, 无精子症, 生育力, 病例报告

Abstract:

Ring chromosome 4 is a rare chromosomal structural abnormality with significant clinical heterogeneity. We report a case of an adult male patient with multiple malformations including microcephaly, micrognathia, hooked nose, short stature, congenital heart defects, and azoospermia. The patient was scheduled for surgery due to a bladder malignancy, and requested fertility preservation before the operation. However, multiple semen analyses indicated azoospermia, and a percutaneous testicular sperm aspiration showed no sperm in both testes. Pathological examination revealed approximately 40 seminiferous tubules with a small number of spermatocytes and a few sperm, and a Johnsen score of 8. Chromosome karyotype analysis showed mos 46,XY,r(4)(?p16.3?q35) [94]/46,XY[6]. It was suggested that the patient undergo microdissection testicular sperm extraction and sperm cryopreservation during the bladder tumor resection. However, due to malignant tumor and other factors, the patient ultimately decided to forgo fertility preservation and only underwent radical tumor surgery. The patient typically presents with multiple system dysfunctions such as growth retardation and abnormal fertility. It is necessary to complete the chromosomal G-banding karyotype analysis and related molecular-level examinations as soon as possible. After diagnosis, genetic counseling should be actively carried out, and assisted reproductive technology should be utilized in a timely manner to better achieve eugenics and good childbearing.

Key words: Ring chromosomes, Chromosomes, human, pair 4, Azoospermia, Fertility, Case reports

李稳安, 付胜蓝, 范文, 侯志金, 杨晓玲, 孟昱时. 4号环状染色体致成年男性生育障碍一例[J]. 国际生殖健康/计划生育杂志, 2025, 44(6): 464-467.

LI Wen-an, FU Sheng-lan, FAN Wen, HOU Zhi-jin, YANG Xiao-ling, MENG Yu-shi. A Case of Adult Male Fertility Disorder Caused by Ring Chromosome 4[J]. Journal of International Reproductive Health/Family Planning, 2025, 44(6): 464-467.

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