| Abstract | Cilj istraživanja: Ciljevi istraživanja bili su odrediti učestalost aneuploidije spolnih kromosoma te istražiti povezanosti fenotipova ispitanika sa specifičnim poremećajem spolnih kromosoma i usporediti s podacima iz literature.
Ispitanici i metode: Provedeno je retrospektivno presječno istraživanje analiziranjem podataka 75 bolesnika s aneuploidijama spolnih kromosoma pri Klinici za dječje bolesti KBC-a Split u razdoblju od 1.1.2010. do 31.12.2019. Prikazani su podatci o spolu, dobi, fenotipskim značajkama sindroma i kariotipu.
Rezultati: Od 75 ispitanika s aneuploidijom spolnih kromosoma 29 (38,7%) je imalo Turnerov, 30 (40%) Klinefelterov, 11 (14,3%) triplo X i 5 (7%) XYY sindrom. Učestalost Turnerovog sindroma iznosi 0,34%, Klinefelterovog 0,36%, triplo X 0,13% te XYY sindroma 0,07%. Od 11 djece s Turnerovim sindromom prenatalno je dijagnosticiran jedan slučaj, u neonatalnoj dobi jedan slučaj, 2 slučaja dijagnosticirana su u dobi 1-3 godine, dok je preostalih 7 djece starije od 6 godina (64%) dijagnosticirano mahom zbog niskog rasta. Od 18 (62%) odraslih bolesnika s mozaičnom formom Turnerova sindroma većina njih ima smanjen reprodukcijski potencijal; 10 (56%) se prezentira infertilitetom, a 6 habitualnim pobačajima. Najčešći fenotip u djece s Klinefelterovim sindromom jest visoki rast (33%). Od 18 (60%) odraslih bolesnika s Klinefelterovim sindromom 15 (83%) ima smanjenu reproduktivnu funkciju, a ostala 3 bolesnika imaju malignu bolest hematološkog sustava. Od 11 bolesnika s triplo X sindromom 8 (72%) je dijagnosticirano u dječjoj dobi gdje je najčešća bila klasična formula triplo X sindroma, uz uputnu dijagnozu neurorazvojnog poremećaja koji je bio prisutan u 50% bolesnika. Od 3 odrasle bolesnice s mozaičnom formom triplo X sindroma, 2 su razvile kroničnu mijeloičnu leukemiju, dok se jedna prezentirala sterilitetom. XYY sindrom pronađen je u 5 bolesnika s klasičnim kariotipom (3 dječaka, 2 odrasla muškarca) i širokim spektrom fenotipova već opisivanih u literaturi.
Zaključci: Učestalost određenog fenotipa bolesnika u sklopu podležećeg sindroma aneuploidije spolnih kromosoma povezana je s dobi i varijantom kariotipa. Klasične forme kariotipa češće se dijagnosticiraju u dječjoj dobi jer imaju prepoznatljiviji fenotip za razliku od fenotipa u odrasloj dobi, koji je teže prepoznatljiv i udružen je s mozaičnom varijantom kariotipa. |
| Abstract (english) | Objectives: The aim of a study was to determine the frequency of aneuploidy of the sex chromosomes and to look into the connectedness of phenotypes in the participants with a specific gender chromosome disorder and compare those with the evidence from the literature.
Materials and methods: A retrospective cross-section study was performed by analysing the data of 75 patients with aneuploidy of the sex chromosomes in the Clinic for Children's Diseases of the University Hospital of Split in the period between January 1st 2010 until December 31st 2019. Data included the details of gender, age, phenotype characteristics and karyotype.
Results: Out of 75 participants with aneuploidy of sex chromosomes 29 (38.7%) had Turner syndrome, 30 (40%) had Klinefelter syndrome, 11 (14.3%) had triple X syndrome and 5 (7%) had XYY syndrome. Frequency of Turner syndrome was 0.34%, Klinefelter syndrome 0.36%, triple X syndrome 0.13% and XYY syndrome was 0.07%. Out of 11 children with Turner syndrome one was diagnosed prenatally, one was diagnosed in neonatal, two were diagnosed between ages one to three, while the other seven were diagnosed mostly because of short stature. Most of adult patients with mosaic forms of Turner syndrome have reduced reproductive potencial; 10 (56%) display infertility and 6 display habitual miscarriages. The most common phenotype in children with Klinefelter syndrome is tall stature (33%). Out of 18 (60%) of adult participants with Klinefelter syndrome, 15 (83%) had lower reproductive function, while other 3 have a malignant disease of the hematological system. Out of 11 participants with triple X syndrome, 8 (72%) are diagnosed during childhood with a neurodevelopmental disorder which occurred in 50% of the participants. There were 3 adult participants with the mosaic form of triple X. Two out of three participants developed a chronic myeloid leukemia while the last one displayed sterility. XYY syndrome was found in 5 patients with classical form of karyotype (3 boys, 2 adults) and with a wide range of phenotypes already described in the literature.
Conclusion: The frequency of a particular patient’s phenotype within the underlying sex chromosome aneuploidy syndrome is related to age and karyotype variant. Classical forms of karyotypes are often diagnosed in childhood because of a more recognizable phenotype as opposed to the adult’s phenotype that is often associated with the mosaic form of the karyotype. |
