engleski

Primary cilliary dyskinesia (PCD), a reporoductive approach: two cases.

Introduction: Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive genetic disorder associated with infertility, due to impaired sperm motility in men. We describe two such cases. Fertilization rate in previously described cases was up to 60%. Materials and methods: Two primary infertile couples were referred to our clinic. Native semen, analyzed according to the WHO manual (2010), showed that male partners have completely immotile sperm with negative pentoxifiline test. Sample vitality was compared according to different semen preparation methods (gradient density and washing method only). Samples for transmission electron microscopy (TEM) were prepared according to Holstein (1981). Genetic testing was done by Whole Exome next-generation Sequencing (WES) analysis. For IVF/ICSI procedure, semen was prepared by gradient density method, and prior to ICSI procedure itself, hypo-osmotic swelling test (HOST) was done. Results: Semen analysis showed oligoasthenozoospermia in Case 1 and oligoasthenoteratozoospermia in Case 2. Blood draw for hormones and karyotype in neither case showed any irregularities. Case 1 patient has not been diagnosed with PCD previously, while Case 2 patient has. Parallel vitality testing did not show any differences between the two semen preparation methods in any of the two cases. TEM preformed in Case 1 showed an existence of an extra microtubule, while genetic testing in Case 2 showed pathogenic apparently homozygous CCDC40:c.2440C> ; T variant in exon 14 of the CCDC40 gene. Fertilization rate after HOST/ICSI in both cases was 100%, and final outcome for both couples was birth of a healthy child. Conclusion: Although PCD has diverse etiology, assisted reproduction techniques such as HOST give these couples a good chance for parenthood. Advances in testing and strict adherence to procedures advised are to be credited for such outcome improvement.

primary ciliary dyskinesia (PCD) ; male infertility

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