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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.
- Source :
-
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2018 Feb 05; Vol. 16 (1), pp. 10. Date of Electronic Publication: 2018 Feb 05. - Publication Year :
- 2018
-
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.
- Subjects :
- Cell Survival
Female
Humans
Infertility, Male etiology
Infertility, Male genetics
Kartagener Syndrome genetics
Kartagener Syndrome pathology
Male
Pentoxifylline
Pregnancy
Sperm Injections, Intracytoplasmic
Spermatozoa ultrastructure
Infertility, Male therapy
Kartagener Syndrome complications
Lasers
Live Birth
Semen Analysis methods
Spermatozoa physiology
Subjects
Details
- Language :
- English
- ISSN :
- 1477-7827
- Volume :
- 16
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Reproductive biology and endocrinology : RB&E
- Publication Type :
- Academic Journal
- Accession number :
- 29402277
- Full Text :
- https://doi.org/10.1186/s12958-018-0321-6