A contemporary treatment regimen normalizes muscle mass and adult height in children with Prader-Willi syndrome - a longitudinal analysis

Abstract

Aim: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioral problems, and hypothalamic dysfunction combined with specific dysmorphisms. PWS is associated with limited adult height and an unfavorable body composition. Premature pubarche is frequent. Data on adult height after long-term growth hormone therapy are limited, as are data on the development of body composition during growth hormone therapy and the role of premature pubarche. This study aimed to explore the effect of long-term growth hormone therapy on adult height and body composition at adult height in children with PWS.

Methods: This was a single-center, retrospective descriptive study involving 24 boys and 20 girls with genetically confirmed PWS. All participants began growth hormone therapy in early childhood until they reached adult height (AH). The children received internationally standardized growth hormone therapy. The primary outcome measures were AH, lean mass (LM), and fat mass (FM), as determined by dual-energy X-ray absorptiometry.

Results: Adult height was 172.4 cm (-0.87 SD) in males and 160 cm (-0.90 SD) in females. There was no difference between children with or without premature pubarche. At adult height, LM was normal, but FM was increased in both males and females.

Conclusion: Boys with PWS reached a normal height compared to their families; in girls, AH was just below the target height. AH did not differ between children with or without premature pubarche. LM was normal but should probably be higher, given the overweight, and FM was still increased after long-term growth hormone therapy.

Keywords

Prader-Willi syndrome / growth hormone therapy / adult height / body composition

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