Abstract
Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder. In adults, the syndrome is characterised by muscular hypotonia, a different body composition with more body fat than muscle mass, hyperphagia, behavioural problems, and cognitive dysfunction. Endocrine deficiencies are common, including growth hormone (GH) deficiency. Here, we present data from a cross-sectional study in adults with PWS with a focus on the long-term safety of GH treatment. A total of 22 patients (14 men) were treated with GH for a median of 20 years. Data on body composition, hormones, and metabolic parameters were retrieved from the patients’ medical records. The median age was 27 years. The median GH dose was 0.5 mg/day. Insulin-like growth factor 1 (IGF-I) and blood lipids were normal, while fasting glucose and HbA1c were slightly elevated in three men with diabetes. Fat mass was less than fat free mass in all, though this was less pronounced in women. GH treatment did not negatively affect the metabolic profile, and none developed cardiovascular diseases or cancer. All adults on long-term GH treatment had a normal body composition and our results indicate that treatment was safe. However, PWS is a complex, multisystemic disease and continuous, individual considerations are required during GH treatment, especially in patients with risk factors for adverse effects.
Highlights
Prader-Willi syndrome (PWS, OMIM 176270) is a rare neurodevelopmental genetic disorder with an incidence of about 1 in 15,000 children [1,2,3]
In this study of 22 adults with PWS who had been treated with growth hormone (GH) for a median time of 20 years, all had a higher fat free body mass (FFM) than fat mass mass (FM), the difference between FFM and FM was less pronounced in women
In a recent systematic review of GH treatment in adults with PWS, improvement in body composition with an increase in lean body mass and a reduction in fat mass was found in all studies [10]
Summary
Prader-Willi syndrome (PWS, OMIM 176270) is a rare neurodevelopmental genetic disorder with an incidence of about 1 in 15,000 children [1,2,3]. PWS is caused by the lack of expression of paternal genes in the q11–q13 region of chromosome 15 [1,2]. The genetic mechanisms include paternal microdeletion in 65–70%, maternal uniparental disomy in. Endocrine deficiencies are common in PWS, including growth hormone (GH) deficiency (GHD), sex hormone deficiencies, hypothyroidism, and, in rare cases, hypocortisolism. Hyperphagia predominates in adults and requires strict environmental control and restricted access to food to prevent extreme obesity. Behavioural problems are often prominent and include an excessive interest in food, skin picking, repetitive behaviours, temper tantrums, anxiety, and mood instability [7]. Scoliosis and low bone mineral density are very frequent [8]
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