Prader-Willi syndrome – clinical and endocrinological characteristics and treatment options

Abstract

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. Key words: Prader-Willi syndrome; obesity; growth hormone