TURNERŮV SYNDROM: PŘEHLED PROBLEMATIKY,SOUČASNÝ STAV, NÁVRH KONCEPCE PÉČE A PROTOKOLSLEDOVÁNÍ V DĚTSTVÍ, ADOLESCENCI A V DOSPĚLOSTI

Turner Syndrome: Overview of Medical Problem, Status of theArt and the Proposal of Centralised Multidisciplinary Care in Childhood, Adolescence and in Adulthood

Background.
Girls and adolescents with Turner syndrome (TS) usually receive intensive medical care ina multidisciplinary team, coordinated by paediatric endocrinologist. Majority of them are discharged from specialistclinics following the induction of puberty and attainment of final height. Patients with Turner syndrome havea reduced life expectancy, they are known to have multi-system impairments in addition to the short stature and tothe absence of sexual development. Aim of this study is to propos a continuous follow-up by multidisciplinary teamof physicians starting in childhood and following the discharge from the paediatric care.Methods and Results. This paper highlights the medical and psychosocial problems associated with Turnersyndrome in childhood, adolescence and in adulthood. Analysis of these problems served as a background tomanagement strategy.Conclusions. Women with Turner syndrome are at risk of number of medical problems. Quality of their life andthe life expectancy can be improved with increasing awareness to comorbities associated with Turner syndrome.Assisted reproduction technologies has recently offered a chance for pregnancy and delivery of a healthy child alsoto women with Turner syndrome. Therefore, long-term follow-up by multidisciplinary team of physicians knowled-geable about these medical problems is necessary. Introduction of a centralised system of systematic multidiscipli-nary approach to patients with Turner syndrome from childhood and adolescence to adulthood seems to be veryimportant.

Key words:
Turner syndrome, management, children, adolescents, adults.