Turner-szindrómások morfológiai jellegei, kariotípusa és kezelésük típusa közötti kapcsolat elemzése

Abstract

Turner-syndrome is a genetic disorder that involves X-chromosome, and affects about 2500–3000 newborn girls around the world. The disease is accompanied by numerous clinical and morphological characteristics, therefore it is very important to study Turner-syndrome patients’ developmental pattern. The main aim of the study was to examine the relationship between the morphological characteristics, the karyotype and the type of treatment of patients with Turner's syndrome.
 Twenty girls and women with Turner-syndrome were studied. The presence or the absence of the morphological characteristics (cubitus valgus, webbed neck, low hairline, four finger crease, short metacarpals and -tarsals, vision problems, low-set ears, spinal malformations, dental malformations) was recorded. The strength of the relationship between the frequency of the examined morphological features and the type of karyotype or treatment was analysed by Fisher’s exact test.
 Cubitus valgus, low-set ears, and dental malformations were the most common morphological abnormalities. Webbed neck, four finger crease and short metacarpals and -tarsals showed significant correlation with the karyotype. We didn’t find any correlation of morphological characteristics with the hormone treatment.