Turner Syndrome: Overview of Medical Problem, Status of the
Art and the Proposal of Centralised Multidisciplinary Care in Childhood, Adolescence and in Adulthood
Šnajderová M., Heresová J., Mardešić T., Křenek M., Hořejší J., Kalvachová B., Popelová J., Mikešová E., Wohlová G.,Feber J., Geržová J., Hroboňová V., Teslík L., Zounarová M., Vejvalková Š.
2. dětská klinika 2. LF UK a FNM, Praha Sanatorium Pronatal, Praha Gynekologicko-porodnická klinika 2. LF UK a FNM, Praha Endokrinologický ústav, Praha Interní klinika 2. LF UK a FNM, Praha Otorinolaryngologická klinika 2. LF UK a FNM, Praha Dermatovenerologická klinika 2. LF UK a FNM, Praha 1. dětská klinika 2. LF UK a FNM, Praha Gynekologicko-porodnická klinika FNsP, Ostrava Ústav biologie a lékařské genetiky 2. LF UK a FNM, Praha |
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Summary:
Background. Girls and adolescents with Turner syndrome (TS) usually receive intensive medical care in
a multidisciplinary team, coordinated by paediatric endocrinologist. Majority of them are discharged from specialist
clinics following the induction of puberty and attainment of final height. Patients with Turner syndrome have
a reduced life expectancy, they are known to have multi-system impairments in addition to the short stature and to
the absence of sexual development. Aim of this study is to propos a continuous follow-up by multidisciplinary team
of 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 Turner
syndrome in childhood, adolescence and in adulthood. Analysis of these problems served as a background to
management strategy.
Conclusions. Women with Turner syndrome are at risk of number of medical problems. Quality of their life and
the 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 also
to 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 very
important.
Key words:
Turner syndrome, management, children, adolescents, adults.
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