ArticleClinical genetics2026
Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.
Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation.Frontiers in endocrinology · 2026Pooled it
- Effectiveness of Recombinant Human Growth Hormone Therapy in Small-for-Gestational-Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status.Clinical endocrinology · 2026Article
- Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review.Diseases (Basel, Switzerland) · 2026Article
- Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.Clinical genetics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous variants in the ACAN gene are a recognized cause of short stature. We aimed to evaluate the response to growth hormone (GH) treatment in members of an extended family carrying an ACAN variant. Clinical and laboratory data of five related children were retrospectively collected. GH therapy was initiated at a mean age of 3.2 ± 2.1 years and treated for 6.4 ± 5.0 years. The height standard deviation scores (SDS) increased from -3.3 ± 1.0 to -2.0 ± 1.1 (p = 0.001), with a mean gain of 1.3 ± 0.3 SDS. The most notable increase in growth velocity SDS occurred during the first year of treatment (-0.5 ± 0.6 to 2.1 ± 1.2; p = 0.04). No adverse effects were observed, and bone age did not advance significantly. Three children entered puberty between the ages of 10 and 11.6 years and received adjunctive gonadotropin releasing hormone analog therapy. Genetic testing identified a heterozygous nonsense variant in the ACAN (c.2023C>T; p.Arg675*). Our findings suggest that GH therapy can improve growth velocity in children with ACAN-related short stature, though the degree of response varies even within the same family. The long-term impact on final adult height remains to be elucidated.
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Registered trials
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