Phenotypic Characterization and recombinant human growth hormone Therapeutic Response in ACAN Children With Short Stature: A Real-World Study
Authors' conclusion
Short stature and advanced bone age are common features of individuals with ACAN variants and represent strong indications for ACAN genetic screening. rhGH therapy demonstrates a growth-promoting effect in these children.
Study context
- Population
- Children with growth retardation carrying heterozygous ACAN variants, identified among 1528 individuals with growth retardation, tertiary pediatric medical center in China, January 2017–April 2024
- Participants
- 37 heterozygous ACAN variants
- Exposure
- Recombinant human growth hormone (rhGH) therapy vs untreated
- Treatmentn = 17
- Untreatedn = 13reference
- Outcome
- Phenotype of children with ACAN variants
Methodological detailsreal-world, single-centre, tertiary pediatric medical center
- Real-world
- Single-centre
- Tertiary pediatric medical center
Main finding
As reported in the abstract
Short stature
78.4%
Advanced bone age
75.7%
Distinct heterozygous ACAN variants identified
33
Novel variants
19
Observational data: associations, not effects.
Further findings
- Final growth velocity in untreated children · follow-up 3-58 months
- 0-6.98 · cm/y
Growth velocity with rhGH vs baseline · 3, 6, 9, 12 and 18 months
- Growth velocity at 3, 6, 9, 12 and 18 months significantly higher than baseline in the treatment group
- all P < .05
Change in height SD score with rhGH · 18 and 24 months vs 3 and 6 months
- Changes in height SD score at 18 and 24 months significantly greater than at 3 and 6 months
- all P < .05
Original publication
Phenotypic Characterization and recombinant human growth hormone Therapeutic Response in ACAN Children With Short Stature: A Real-World Study. Endocr Pract. Published 24 July 2026. doi:10.
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