Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data
Authors' conclusion
The phenotype of subjects with pathogenic heterozygous ACAN variants is highly variable, and genetic testing for ACAN deficiency should be considered in any child with significant short stature, even in the absence of disproportion, specific dysmorphic features, or BA advancement. Furthermore, children with ACAN deficiency may benefit from GH with a modest but significant response, which is sustained during 3 years of treatment.
Study context
- Population
- Children with a heterozygous ACAN variant treated for ≥1 year with growth hormone (GH), Dutch National Registry of GH treatment in children23 boys · 13 girls
- Participants
- 36 children
- Outcome
- Height gain SDS in prepubertal children
- Follow-up
- 3 years of GH
Methodological detailsreal-world data, national registry
- Real-world data
- National registry
Main finding
As reported in the abstract
Height gain SDS in prepubertal children (median, IQR)
1.0 SDS
0.9–1.4
Observational data: associations, not effects.
Further findings
| Outcome | Truncating | Non-truncating | P value |
|---|---|---|---|
| Height SDS by variant typeShorter with truncating variant | −2.8 SDS | −2.1 SDS | P = 0.002 |
Height SDS at start of GH
- Median (IQR) height SDS
- −2.6 SDS (−3.2 to −2.2)
- 25 different heterozygous ACAN variants
Phenotype
- Disproportion, advanced bone age (BA), early-onset osteoarthritis (OA), midface hypoplasia and brachydactyly present in the majority; no specific features reported
- ∼20%
Original publication
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data. Horm Res Paediatr. Published 17 January 2024. doi:10.
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