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Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
Published on: January 7, 2016
A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome
Nils R Hebach1, Pilar Caro1, Bailey A Martin-Giacalone2
1Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Insights
Growth hormone therapy improved height and reduced BMI in children with Schaaf-Yang syndrome (SYS). This treatment also enhanced muscle strength, endurance, and potentially cognition and motor development in SYS patients.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
- Metabolic Disorders
Background:
- Schaaf-Yang syndrome (SYS) is characterized by short stature, hypotonia, and developmental delay.
- Growth hormone (GH) deficiency is suspected in SYS, similar to Prader-Willi syndrome (PWS).
- Recombinant human GH (rhGH) is approved for PWS, but its effects in SYS are unknown.
Purpose of the Study:
- To investigate the prevalence and effects of rhGH therapy in children with SYS.
- To analyze anthropometric changes and parental perceptions of rhGH treatment in SYS.
- To compare growth outcomes between treated and untreated SYS individuals.
Main Methods:
- Retrospective analysis of questionnaire data and growth charts from 26 individuals with SYS.
- Assessment of anthropometric measures (height z-score, BMI) before and after rhGH initiation.
- Collection of parental feedback on treatment effects.
Main Results:
- rhGH therapy significantly increased height z-scores (p=0.04) and decreased BMI (p=0.04) at 6 months.
- Treated SYS patients had significantly higher height z-scores (-1.00) than untreated patients (-3.36, p=0.01).
- Parents reported increased muscle strength, endurance, and noted potential cognitive and motor improvements.
Conclusions:
- rhGH therapy demonstrates positive effects on growth and body composition in children with SYS.
- rhGH treatment may offer broader benefits, including improved muscle function and development, in SYS.
- Further research is warranted to confirm these findings and optimize rhGH use in SYS.
Abstract:
Short stature is a common phenotype in children with Schaaf-Yang syndrome (SYS). Prader-Willi syndrome (PWS) and SYS share several phenotypic features including short stature, muscular hypotonia and developmental delay/intellectual disability. Evidence exists that similar to PWS, growth hormone (GH) deficiency may also be a feature of SYS. Recombinant human GH (rhGH) therapy has been approved for PWS, but the effects of rhGH therapy in individuals with SYS have not yet been documented. This retrospective, questionnaire-based study analyzes the prevalence of rhGH therapy in children with SYS, the effects of rhGH therapy on anthropometric measures, and parental perception of the treatment. Twenty-six individuals with SYS were sent a clinical questionnaire and a request for growth charts. We found a significant increase in height z-score (p* = 0.04) as well as a significant decrease in body mass index 6 months after rhGH therapy initiation (p* = 0.04). Furthermore, height z-scores of the treated group (mean z-score = -1.00) were significantly higher than those of the untreated group (mean z-score = -3.36, p = 0.01) at time of enrollment. All parents reported an increase in muscle strength and endurance, and several families noted beneficial effects such as improved cognition and motor development.
