| Abstract | 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. |
| Abstract (english) | 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. |
