Current status of growth hormone therapy in Prader–Willi syndrome

Abstract

Prader–Willi syndrome (PWS) is a complex genetic disorder characterized by muscular hypotonia, hypogonadism, short stature, hyperphagia, obesity, cognitive disabilities and behavioral problems. Body composition is abnormal and growth hormone (GH) secretion is insufficient with more body fat than lean body mass. In children with PWS treatment with GH improves height, head size, body composition and psychomotor functioning. In adults with PWS treatment with GH improves body composition, physical activity and quality of life. However, restricted diet and regular physical exercise are cornerstone treatments in PWS also during GH treatment. GH treatment should be considered in PWS patients with a genetically confirmed diagnosis. Cognitive disabilities and scoliosis are not contraindications to GH treatment. Adverse effects to GH treatment in PWS are few, but glucose metabolism and changes in respiration must be monitored carefully, especially in individuals with predispositions. GH treatment should be continued as long as benefits outweigh the risks.

Keywords::

• growth hormone
• growth hormone deficiency
• growth hormone treatment
• obesity
• PWS

Financial & competing interests disclosure

C Hoybye is a member of Nordinet IOS and Swedish KIMS board (Pfizer), is Nordinet, HypoCCS, Patro and KIMS investigator and have received lecture fees and study grants from NovoNordisk and Pfizer. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Key issues

• • Growth hormone (GH) treatment should be considered in Prader–Willi syndrome (PWS) patients with a genetically confirmed diagnosis.

• • Cognitive impairment and scoliosis are not contraindications to GH treatment.

• • Exclusion criteria to GH treatment are severe obesity, uncontrolled diabetes mellitus, proliferative retinopathy, untreated severe obstructive sleep apnea and active cancer.

• • GH treatment normalizes skeletal growth and improves body composition, psychomotor development, physical capacity and quality of life.

• • GH treatment in Prader–Willi syndrome is safe but glucose metabolism, especially in patients with predisposition for diabetes, must be evaluated continuously, likewise changes in respiration.

• • Strict diet and regular physical exercise are also cornerstone treatments during GH treatment.