Genetic causes of infertility in eastern Slavonia region

Ciljevi istraživanja: Utvrditi broj neplodnih parova koji su se javili u Genetičko savjetovalište KBC-a Osijek, odrediti omjer pacijenata registriranih u savjetovalištu i onih poslanih na kariotipizaciju, odrediti postotak parova s dokazanim genetičkim uzrokom infertiliteta, odrediti pojavnost genetičkih entiteta, usporediti dobivene rezultate s drugim nacionalnim istraživanjima ili zemljama iz okruženja. Ustroj studije: Istraživanje je retrospektivno. Ispitanici i metode: Pregled medicinske dokumentacije infertilnih parova obrađenih u KBC-u Osijek i Laboratoriju za medicinsku genetiku Medicinskog fakulteta Osijek 2006. - 2016. godine. Rezultati: U KBC-u Osijek ukupno je obrađeno 982 para 2006. – 2016. godine. Iz Ambulante za humanu reprodukciju obrađeno je 857 parova, od kojih je 21 par (2,3 %) imao nalaz kariograma. Broj parova registriranih u Genetičkom savjetovalištu bio je 135. Od toga je 126 parova i 1 muškarac (93,7 %) poslano na kariotipizaciju. Za 275 osoba napravljen je barem jedan genetički test, uključujući kariogram. Genetički uzrok infertiliteta nađen je kod 16 parova: 13 žena i 3 muškarca. Zaključak: U desetogodišnjem razdoblju u Genetičko savjetovalište KBC-a Osijek javilo se 135 neplodnih parova, 93,7 % poslano je na kariotipizaciju. Sveukupno je nalaz kariograma imalo 275 osoba. Genetički uzrok infertiliteta dokazan je kod 5,81 % pacijenata obrađenih genetičkim testovima, i kod 11,85 % parova iz Genetičkog savjetovališta. Utvrđeni genetički uzroci infertiliteta: Turnerov sindrom, Klinefelterov sindrom, delecija Y kromosoma, nositelji kromosomske translokacije, MTHFR homozigoti, PAI-1 polimorfizmi. Pojavnost mikrodelecije Y kromosoma, MTHFR i PAI-1 mutacija bila je slična pojavnosti u drugim studijama. Pojavnost ostalih entiteta bila je niža nego u drugim studijama.Objectives: The aim of this study was to determine the number of infertile couples registered at Clinical Hospital Center Osijek, to determine the ratio of patients registered and those with karyotype test result, to determine the percentage of couples with identified genetic cause of infertility, to determine the prevalence of genetic entities and to compare these results to other national research results or research results from other countries in the region. Study design: The research was retrospective. Material and methods: Analysis of medical documentation of infertile couples registered at Clinical Hospital Center Osijek and Medical faculty Osijek from 2006 to 2016. Results: There were 982 couples treated at Clinical Hospital Center Osijek. Out of 857 couples at the Clinic for Gynecology and Obstetrics, 21 couples were subjected to karyotyping test analysis. The number of couples registered at Clinic for Genetic Counseling was 135 and 126 couples and 1 man (93.2 %) had a karyotype test result. 275 patients were subjected to at least one genetic test. Genetic cause of infertility was found in 16 patient, or 16 couples: in 13 women and 3 men. Conclusion: In a ten-year period there were 135 couples registered at Clinic for Genetic Counseling at Clinical Hospital Center Osijek, 93.2 % were subjected to karyotypes test. 275 people had a karyotyping test analysis. Genetic cause of infertility was determined in 5.81 % patients, of those who underwent at least one genetic test and in 11.85 % of couples at Clinic for Genetic Counseling. The following genetic causes contributing to infertility were identified: Turner´s syndrome, Klinefelter´s syndrome, terminal deletion of the Y chromosome, carriers of chromosomal translocation, MTHFR homozygous gene mutations, PAI-1 polymorphisms. Prevalence of Y chromosome deletions, MTHFR and PAI-1 mutations was similar to prevalence obtained in other studies. Prevalence of remaining genetic entities was found lower in comparison to those in other studies