Nursing care of the child with turner syndrome

Turnerjev sindrom (TS) je kromosomopatija, pri čemer en kromosom X delno ali v celoti manjka, zato je vseh kromosomov samo 45 namesto običajnih 46. Jajčniki deklic brez drugega kromosoma X ne delujejo normalno, zato ne proizvajajo hormonov, ki so potrebni za normalno rast in spolni razvoj. Namen zaključnega dela je predstaviti življenje 14 letne deklice s TS. Uporabili smo kvalitativno metodo raziskovanja. Podatke smo zbrali s pomočjo vprašalnika, namenjenega staršem deklice s TS in je sestavljen iz odprtega tipa vprašanj. S pomočjo študije primera smo prišli do ugotovitve, da ima TS velik vpliv tako na vsakdanja opravila obolele deklice, kot tudi na celotno družino. Menimo, da največji oviri pri TS predstavljata nizka rast in neplodnost, vendar se lahko oboje uspešno regulira tako z uporabo rastnega hormona, ki pripomore k višji rasti, kot tudi nove tehnike umetne oploditve z darovanjem jajčnih celic, ki povečujejo možnost spočetja pri osebah z mozaicizmom.Turner syndrome (TS) is a condition in which a female is partly or completely missing one X chromosome. Instead of 46 there are only 45 chromosomes. The ovaries of girls without the second chromose X do not funtion normaly, they do not produce hormones that are necessery for normal growth and sexual development. The purpose of this undergraduate thesis is to present the life of a 14 year old girl with TS. A qualitative methodology of research was used. The data was collected using a questionnaire designed for the parents of a girl with TS and consists of open-ended questions. With a case study, it was concluded that TS has a great impact on everyday tasks of the affected girl, as well as on the whole family. It was concluded that low growth and infertility are the biggest barriers for people affected by TS. However, both can be successfully regulated by the use of a growth hormone and/or with new artificial insemination techniques by donating eggs. The latter increases the possibility of conception in persons with mosaicism