47,XYY综合征伴隐匿精子症1例报告并文献复习

Case study: 47,XYY syndrome with cryptozoospermia and related literature review

目的:探讨47,XYY综合征合并隐匿精子症的治疗方法和子代遗传。方法:回顾分析1例47,XYY综合征合并隐匿精子症患者的临床资料,并结合国内外文献对其临床特征、合并不育的治疗、子代遗传等进一步分析与讨论。结果:患者经过药物治疗后复查精液常规未见明显好转,对不育的治疗方案调整为借助辅助生殖技术,经过单精子卵泡浆内注射获得8个胚胎,植入2个胚胎,着床1个。女方于孕16周行羊水穿刺检查示染色体核型为46,XY,足月顺产1男婴,婴儿染色体核型为46,XY,随访半年未见异常。结论:47,XYY综合征合并隐匿精子症临床极为罕见,对其不育的治疗主要借助辅助生殖技术。

Objectives： To explore the treatment methods and genetic features of 47, XYY syndrome with cryptozoospermia. Method： the clinical history of a case of 47, XYY syndrome with cryptozoospermia was retrospectively studied, then further discus- sion and analysis were made to explore the clinical features, therapy effectiveness, and genetic features by reviewing the relevant lit- erature published both at home and abroad. Results： The semen quality remains the same after medication therapy, hence assisted reproductive technology （ART） was recommended to solve the problem of infertility. Eight embryos were obtained by intracytoplas- mic sperm injection （ICSI）, two were transferred and one successfully conceived. The chromosomal karyotype was found normal with a result of 46, XY after puncturing amniotic fluid examination at 16 weeks. A healthy male infant was born, and the chromo- somal karyotype of the baby was 46, XY. In a 6 - month follow - up visit, the baby remains normal. Conclusion： 47, XYY syn- drome with cryptozoospermia is extremely rare and the infertility should be treated by the assisted reproductive technology.