Paediatria Croatica, Vol. 60 No. 4, 2016.
Pregledni rad
https://doi.org/10.13112/PC.2016.23
Prader-Willi syndrome – clinical and endocrinological characteristics and treatment options
Gordana Stipančić
; Klinika za pedijatriju, KBC „Sestre milosrdnice“, Vinogradska cesta 29, 10 000 Zagreb
Marija Požgaj Šepec
Lavinia La Grasta Sabolić
Sažetak
Prader-Willi syndrome is a rare and complex genetic disorder that disrupts the function of multiple organ systems due to the absent
expression of paternal genes from chromosome 15q11.2-q13. It is characterized by hypotonia found in neonatal period, which
disturbs feeding and gaining weight. Soon after, the patients are prone to morbid obesity due to hyperphagia. Despite the fact that
they are obese, these children have short stature and failure of pubertal development. Motor skills and language development are
delayed and moderate to mild cognitive impairment and disturbances of behavior are common. The disease is characterized by
many complications, mainly associated with obesity. The estimated incidence of Prader-Willi syndrome in Europe is 1:30 000 live
births, with a prevalence of 1:50 000 in general population. It is essential to confi rm the diagnosis by genetic analysis as early as
possible in order to start treatment and multidisciplinary care. Strict supervision of daily food intake is needed to prevent development
of obesity, along with early habilitation intervention for improvement of psychomotor development. In the last few years,
growth hormone (GH) replacement has been introduced for children with Prader-Willi syndrome since GH defi ciency was proven in
the majority of these children. GH therapy accelerates growth, improves fi nal height, and has benefi cial eff ect on body composition
with the eff ect on muscle and fat tissue content. In case of hypogonadism or hypothyroidism, substitution with sex hormones and
thyroxine is added. It is important that physicians are familiar with the need of early diagnosis and treatment modalities available
for this rare disease in order to improve the quality of life and extend life expectancy of these patients.
Ključne riječi
Prader-Willi syndrome; obesity; growth hormone
Hrčak ID:
180889
URI
Datum izdavanja:
23.12.2016.
Posjeta: 5.369 *