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

Sinan Ozkavukcu, Ciler Celik-Ozenci, Esma Konuk, Cem Atabekoglu

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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.

Original languageEnglish
Article number10
Number of pages9
JournalReproductive Biology and Endocrinology
Volume16
Issue number1
DOIs
Publication statusPublished - 5 Feb 2018

Keywords

  • Asthenozoospermia
  • ICSI
  • Immotile cilia
  • Kartagener's syndrome
  • Laser assisted viability assay

ASJC Scopus subject areas

  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynaecology
  • Developmental Biology

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