Department of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted Reproduction, Ankara Universitesi Tip Fakultesi Cebeci Hastanesi, Kadin Hastaliklari ve Dogum AD, ÜYTE Merkezi, Dikimevi-Ankara, Turkey.
Department of Histology and Embryology, Akdeniz University School of Medicine, Akdeniz Universitesi Tip Fakultesi Histoloji ve Embriyoloji AD, Konyaaltı-Antalya, Turkey.
Reprod Biol Endocrinol. 2018 Feb 5;16(1):10. doi: 10.1186/s12958-018-0321-6.
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disease with abnormalities in the structure of cilia, causing impairment of muco-ciliary clearance with respiratory tract infections, heterotaxia and abnormal sperm motility with male infertility. Here, with a comprehensive literature review, we report a couple with an infertility history of 9 years and three unsuccessful IVF treatments, where male partner has Kartagener's Syndrome, a subtype of PCD, displaying recurrent respiratory infections, dextrocardia and total asthenozoospermia. His diagnosis was verified with transmission electron microscopy and genetic mutation screening, revealing total absence of dynein arms in sperm tails and homozygous mutation in the ZMYND10, heterozygous mutations in the ARMC4 and DNAH5 genes. Laser assisted viability assay (LAVA) was performed by shooting the sperm tails during sperm retrieval for microinjection, following detection of pentoxifylline resistant immotile sperm. Live births of healthy triplets, one boy and two monozygotic girls, was achieved after double blastocyst transfer.
原发性纤毛运动障碍(PCD)是一种罕见的常染色体隐性遗传病,其纤毛结构异常,导致呼吸道感染时黏液纤毛清除功能受损、内脏转位和男性不育时精子运动异常。在此,我们通过全面的文献回顾,报告了一对有 9 年不孕史和 3 次 IVF 失败的夫妇,其中男方患有 KARTAGENER 综合征,这是 PCD 的一种亚型,表现为反复呼吸道感染、右位心和完全不动精子症。他的诊断通过透射电子显微镜和基因突变筛查得到了证实,显示精子尾部的动力蛋白臂完全缺失,ZMYND10 纯合突变,ARMC4 和 DNAH5 基因杂合突变。在精子回收进行微注射时,通过拍摄精子尾部,对精浆中五氧嘧啶抗性不动精子进行了激光辅助活力检测(LAVA)。在双囊胚移植后,成功生育了健康的三胞胎,一男两女。