摘要
目的:探讨1例患有环状22号染色体综合征的无精子症患者的临床表型和遗传学特征。方法:收集1例环状22号染色体综合征患者的临床信息,结合文献加以分析。结果:患者身材矮小,体检双侧睾丸小,质地软,精液检查示无精子症。染色体核型为46,XY,r(22)(p11,q25),性激素示睾酮低下,睾丸大体病理示组织脆、易拉断,病理镜检示生精小管内支持细胞及生殖细胞数量均减少,细胞层次变薄,生殖细胞均为精原细胞,未见精母细胞和精子细胞,完全无精子发生。部分生精小管的管壁可见间质轻度纤维化。结论:环状22号染色体综合征的临床表型基本正常,但这种遗传异常使患者的睾丸组织严重受损,生精过程被阻滞而导致了无精子症。
Objective： To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome. Methods ： We analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and re- viewed relevant literature. Results： The patient was a short 29-year-old male, with bilateral testes small in size and soft in texture. Seminal examination indicated azoospermia. Chromosome analysis showed the karyotype of the patient to be 46, XY, r （22） （pl 1, q25）. The level of testosterone was low, and the testicular tissue was brittle and easy to break. Pathological microscopy revealed re- duced number of Sertoii cells and germ cells in the seminiferous tubules and thinner layers of cells. All the germ cells were spermatogo- nia. Neither spermatocytes nor sperm cells were found, which suggested complete spermatogenic failure. Mild interstitial fibrosis was visible in part of the seminiferoas tubule walls. Conclusion： Patients with ring 22 chromosome syndrome usually represent normal clinical phenotypes. However, this kind of genetic abnormality often induces severe testicular damage and spermatogenic arrest, which may result in azoospermia.
出处
《中华男科学杂志》
CAS
CSCD
2012年第12期1111-1114,共4页
National Journal of Andrology
基金
福建省卫生厅青年课题(2010-2-108)~~
