J Genet Med.  2023 Dec;20(2):60-69. 10.5734/JGM.2023.20.2.60.

Growth hormone treatment for

• Im M
• Kim C
• Sung J
• Kim I
• Hwang JH
• Kim MS
• Cho SY

• KMID: 2550316
• DOI: http://doi.org/10.5734/JGM.2023.20.2.60

Abstract

Purpose
Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II.
Materials and Methods
A total of nine pediatric patients—four with MPS I and five with MPS II—underwent treatment with ERT and hGH at Samsung Medical Center.
Results
The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from –4.09±0.83 to –3.68±0.43 after 1 year of hGH treatment, and to –3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment.
Conclusion
This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

Keyword

Mucopolysaccharidoses; Growth hormone; Dwarfism