The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature

Abstract

Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader-Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with rhGH as growth hormone-deficient individuals or as children born small for their gestational age. After years of experience with this therapy in syndromic short stature, it has been proved that there are some aspects of long-term rhGH treatment beyond growth promotion, which can justify rhGH use in these individuals. This paper summarizes the data of a literature review of the effects of rhGH treatment beyond growth promotion in selected genetic syndromes. We chose three of the most common syndromes, Prader-Willi, Turner, and Noonan, in which rhGH treatment is indicated, and three rarer syndromes, Silver-Russel, Kabuki, and Duchenne muscular dystrophy, in which rhGH treatment is not widely indicated. Many studies have shown a significant impact of rhGH therapy on body composition, resting energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. Growth promotion is undoubtedly the primary benefit of rhGH therapy; nevertheless, especially with genetic syndromes, the additional effects should also be considered as important indications for this treatment.

Keywords: QoL; bone; children; genetic syndromes; growth hormone treatment; metabolic effects; muscle.

Figure 1

PRISMA 2020 flow diagram systematic reviews of rhGH therapy effects in children with selected genetic syndromes. PWS—Prader–Willi syndrome; TS—Turner syndrome; NS—Noonan syndrome; SRS—Silver–Russel syndrome; KS—Kabuki syndrome; DMD—Duchenne muscular dystrophy, rhGH—recombinant human growth hormone.

Figure 2

Comparison between percentage of papers regarding rhGH effects beyond growth promotion among PWS (% of 83 papers), TS (% of 51 papers), and NS (% of 26 papers). PWS—Prader–Willi syndrome; TS—Turner syndrome; NS—Noonan syndrome.