research
Growth Hormone Treatment in Children with Prader-Willi Syndrome
- Publication date
- 19 June 2015
- Publisher
- __Abstract__
This is the fifth thesis of our research group in the field of Prader-Willi syndrome (PWS)
and encompasses 6 new studies embedded in the Dutch PWS Cohort study in children
and adolescents with PWS.
In 1887, sir Langdon Down described an adolescent girl with short stature, obesity,
hypogonadism and cognitive impairment. Almost a century later, in 1956,
3 endocrinologists Prader, Labhart and Willi described the most characteristic features
as “Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchidismus und Oligophrenie nach
myotoniertigem Zustand im Neugeborenenalter”. A detailed description of the syndrome
was given several years later. The clinical features which were considered characteristic
were floppy at birth, obesity, mental retardation, hypogonadism, hypotonia,
shortness of stature, prominent forehead, almond-shaped eyes, retroussé nose, small
fish-like mouth, short hands and feet and some of them showed a diabetic type of glucose
tolerance test. First research topics were predominantly describing the syndrome,
at that time also known as syndrome of Hypotonia-Hypomentia-Hypogonadism-Obesity
(HHHO), and focused on the relations with diabetes and the cause of hypotonia. In
the 70s studies reported on low growth hormone (GH) levels9-11 and the first clinical trial
with GH treatment was published in the 80s.
Since 2002, our research group has been investigating the effects of GH treatment in
children with PWS in the Dutch PWS Cohort study.
Knowledge about different aspects of PWS has vastly increased over the past 50 years,
although new questions and dilemmas are met and need further investigations.
This chapter describes the clinical manifestations in different stages of life, the genetic
background, the hypothalamic – pituitary axis in children with PWS. In the scope of this
thesis, characteristics of children with PWS are described in combination with the longterm
effects of GH treatment. Finally, the aims of the studies described in the following
chapters are presented.