Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World…

Cohort studyEndocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists· Jul 2026

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Su Wu, Yiyun Cui, Yunchong Chen … Wei Gu

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Pediatric Endocrinology & GrowthCohort studyTreatmentQ1IF 3.5

Most children with heterozygous ACAN variants presented with short stature.

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Su Wu … Wei Gu

Endocrine practice · Jul 2026 · Q1 in General Medicine

Purpose

To investigate deep phenotypes and evaluate the efficacy of recombinant human growth hormone (rhGH) therapy in children with growth retardation carrying heterozygous ACAN variants.

Methods

We retrospectively analyzed 37 children with heterozygous ACAN variants identified among 1,528 individuals with growth retardation at a tertiary pediatric medical center in China between January 2017 and April 2024.

n = 1,528 individuals

Results

most children with these variants had short stature

78.4%

Short stature

75.7%

Advanced bone age

More results

33 distinct heterozygous ACAN variants were identified, including 19 novel variants.

In the treatment group (n = 17), rhGH therapy lasted 4-61 months.

Growth velocity (growth velocity) at 3, 6, 9, 12, and 18 months was significantly higher than baseline (all P < 0.05).

More results

Changes in height standard deviation score (Ht SDS) at 18 and 24 months were significantly greater than those at 3 and 6 months (all P < 0.05).

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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.

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

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