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 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.Electronic supplementary materialThe online version of this article (10.1186/s12958-018-0321-6) contains supplementary material, which is available to authorized users.

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

“…Male infertility has also been detected in PCD patients with mutations in axonemal dynein assembly factors LRRC6 (leucine-rich repeat containing 6), ZMYND10 (zinc finger MYND-type containing 10) and cilia and flagella-associated protein 300 (CFAP300). PCD with a lack of dynein arms in both the cilia and sperm is reported for LRRC6, ZMYND10, CFAP300 and axonemal dynein complex gene CCDC103 (coiled-coil domain containing 103) [16,44,54,65,97,99,100]. However, for CCDC103 mutations variable male fertility phenotype has been reported; one patient showed a lack of DA and DRC comparable to the motile cilia phenotype, but the other was fertile without DA loss [100].…”

Novel Techniques of Sperm Selection for Improving IVF and ICSI Outcomes

“…This method has shown to significantly increase cleavage and birth rates after ICSI using both testicular and ejaculated sperm when compared to control groups (Aktan et al, 2004; Nordhoff et al, 2013). Moreover, LAISS has shown its utility to restore fertility following ICSI in specific cases of male patients showing primary cilia dyskinesia (Gerber et al, 2008) and the Kartagener’s syndrome (Ozkavukcu et al, 2018). Despite the potential of this technique, its complexity and cost have possibly prevented its use in clinical routines and explain the scarce number of published studies.…”

Sperm Selection Procedures for Optimizing the Outcome of ICSI in Patients with NOA

“…A healthy birth was also achieved with laser-selected immotile but living frozen/thawed spermatozoa [ 105 ]. Furthermore, live births were reported with LA selection of pentoxifylline-resistant immotile sperm in cases of Kartagener’s Syndrome [ 106 ]. Thus, viable sperm selection using LA technology, which is simpler and faster than HOST and does not require the use of chemical agents, now allows immotile sperm to be cryostored in order to preserve fertility.…”