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
Abstract 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 lit...
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| Format: | Article |
| Language: | English |
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BMC
2018-02-01
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| Series: | Reproductive Biology and Endocrinology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12958-018-0321-6 |
| _version_ | 1819044286197399552 |
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| author | Sinan Ozkavukcu Ciler Celik-Ozenci Esma Konuk Cem Atabekoglu |
| author_facet | Sinan Ozkavukcu Ciler Celik-Ozenci Esma Konuk Cem Atabekoglu |
| author_sort | Sinan Ozkavukcu |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-21T10:10:16Z |
| format | Article |
| id | doaj.art-4cfc6ee9a25d4b1896fe8fa5987a187b |
| institution | Directory Open Access Journal |
| issn | 1477-7827 |
| language | English |
| last_indexed | 2024-12-21T10:10:16Z |
| publishDate | 2018-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Reproductive Biology and Endocrinology |
| spelling | doaj.art-4cfc6ee9a25d4b1896fe8fa5987a187b2022-12-21T19:07:44ZengBMCReproductive Biology and Endocrinology1477-78272018-02-011611910.1186/s12958-018-0321-6Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener’s syndromeSinan Ozkavukcu0Ciler Celik-Ozenci1Esma Konuk2Cem Atabekoglu3Department of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted ReproductionDepartment of Histology and Embryology, Akdeniz University School of MedicineDepartment of Histology and Embryology, Akdeniz University School of MedicineDepartment of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted ReproductionAbstract 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.http://link.springer.com/article/10.1186/s12958-018-0321-6Kartagener’s syndromeImmotile ciliaLaser assisted viability assayICSIAsthenozoospermia |
| spellingShingle | Sinan Ozkavukcu Ciler Celik-Ozenci Esma Konuk Cem Atabekoglu 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 Reproductive Biology and Endocrinology Kartagener’s syndrome Immotile cilia Laser assisted viability assay ICSI Asthenozoospermia |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Kartagener’s syndrome Immotile cilia Laser assisted viability assay ICSI Asthenozoospermia |
| url | http://link.springer.com/article/10.1186/s12958-018-0321-6 |
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