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

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 r...

Full description

Saved in:
Bibliographic Details
Published in:Reproductive biology and endocrinology 2018-02, Vol.16 (1), p.10-10, Article 10
Main Authors: Ozkavukcu, Sinan, Celik-Ozenci, Ciler, Konuk, Esma, Atabekoglu, Cem
Format: Article
Language:English
Subjects:
Asthenozoospermia
Care and treatment
Gene mutation
Genetic aspects
ICSI
Immotile cilia
Kartagener’s syndrome
Laser assisted viability assay
Patient outcomes
Physiological aspects
Respiratory tract infections
Short Communication
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1477-7827
1477-7827
DOI:10.1186/s12958-018-0321-6