Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener's syndrome

被引:16
作者
Ozkavukcu, Sinan [1 ]
Celik-Ozenci, Ciler [2 ]
Konuk, Esma [2 ]
Atabekoglu, Cem [1 ]
机构
[1] Ankara Univ, Sch Med, Ctr Assisted Reprod,Kasin Hastaliklari & Dogum AD, Dept Obstet & Gynecol,Cebeci Hastanesi,UYTE Merke, Dikimevi Ankara, Turkey
[2] Akdeniz Univ, Sch Med, Dept Histol & Embryol, Konyaalti Antalya, Turkey
关键词
Kartagener's syndrome; Immotile cilia; Laser assisted viability assay; ICSI; Asthenozoospermia; INTRACYTOPLASMIC SPERM INJECTION; PRIMARY CILIARY DYSKINESIA; TESTICULAR SPERM; DYNEIN ARMS; PATIENT; IMMOBILIZATION; FERTILIZATION; MUTATIONS; PREGNANCY; MOTILE;
D O I
10.1186/s12958-018-0321-6
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:9
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