Review of growth hormone therapy in adolescents and young adults with Prader–Willi syndrome

Abstract

Consensus guidelines from the Growth Hormone Research Society Workshop recommend growth hormone therapy in all children with genetically confirmed Prader–Willi syndrome (PWS) in combination with dietary, lifestyle and environmental interventions. As yet, however, there are limited published data regarding the use of growth hormone therapy in adolescents and young adults with PWS. This review focuses on the advantages and disadvantages of growth hormone therapy in this particular group. The risk of complications, challenges with consent for therapy, the need for contraception in females with PWS and the appropriate monitoring required are all factors which must be carefully considered in this challenging patient group. Transition from paediatric to adult services can be difficult for most adolescents, but especially so for PWS adolescents and should be undertaken under the care of experienced paediatric and adult endocrinologists and a multidisciplinary team approach. Further research is, however, still required in the management of PWS patients during adolescence.

Keywords:

• adolescent
• growth hormone
• paediatric
• Prader–Willi syndrome
• transition

Financial & competing interests disclosure

The authors have no 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. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

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

Key issues

• Prader–Willi syndrome (PWS) is a genetic condition usually associated with a paternal deletion or maternal uniparental disomy of chromosome 15 and characterised by hypotonia, initially poor feeding in the neonatal period, followed by hyperphagia, obesity, hypogonadism and growth retardation, together with distinctive facies and developmental delay.

• Consensus guidelines from the Growth Hormone Research Society Workshop recommend growth hormone (GH) therapy in all patients with genetically confirmed PWS in combination with dietary, lifestyle and environmental interventions.

• The benefits of GH therapy for children with PWS are established in terms of increasing final height and improving body composition, bone health and vascular status. These results continue into adulthood with studies suggesting that treatment with GH in childhood or adolescence is associated with significantly decreased BMI and improved body composition and metabolic status in adults with PWS.

• Before initiating treatment, a GH provocation test should be conducted (consider using BMI-related cut-offs) as well as an ear, nose and throat assessment and sleep study and cognitive/psychological assessment. A genetic diagnosis of PWS should also be confirmed as part of a specialist multidisciplinary assessment.

• Adolescents on GH therapy should be regularly reviewed for any evidence of side effects, including changes in physical appearance, joint pain, sleep apnoea, headache, benign intracranial hypertension, slipped capital femoral epiphysis, insulin resistance and decreased levels of thyroid hormone, all of which have been reported in paediatric patients with or without PWS who were receiving GH treatment.

• At the time of transition to adult services, consideration should be given to stopping GH therapy and reassessing the GH/IGF-1 axis.

Notes