Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment
Authors' conclusion
Patients presented with a phenotype of hypotonia, respiratory insufficiency, and feeding difficulties after birth, endocrine disorders, intellectual disability, and behavioral problems. Treatment with GH significantly improved height SDS and BMI over the course of 4 years.
Study context
- Population
- Children with Schaaf-Yang syndrome (truncating MAGEL2 mutations)
- Participants
- 7 children
- Exposure
- Growth hormone (GH) treatment, before vs after
- GHn = 7
- Outcome
- Effect of GH treatment on height and BMI (4 years) and body composition (1 year)
- Follow-up
- 4 years
Main finding
As reported in the abstract
Height SDS · start to 4 years of GH
| Group | Value | Baseline mean (95% CI) |
|---|---|---|
| GH | mean −0.05 (95% CI −1.87–1.77) SDS | −1.74 (−3.55; 0.07) |
GH
Valuemean −0.05 (95% CI −1.87–1.77) SDS
Baseline mean (95% CI)−1.74 (−3.55; 0.07)
Observational data: associations, not effects.
Further findings
| Outcome | Values |
|---|---|
| BMI SDS · start to 6 months | GH mean 1.22 (95% CI 0.18–2.26) SDS · baseline mean (95% CI) 2.01 (1.02; 3.00) |
Body mass index (BMI) SDS · start to 6 months
- BMI SDS decreased significantly and remained the same during rest of follow-up
Body composition · 1 year
- Fat mass percentage SDS decreased and lean body mass did not change (3 patients)
Phenotype
- Hypotonia and feeding difficulties after birth
- 86%
- Full-scale IQ range
- <50 to 92
- All had normal birth weight; all aged >2 years had psycho-behavioral problems; no apparent genotype-phenotype correlation
Original publication
Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment. Horm Res Paediatr. Published 21 June 2023. doi:10.
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