ArticleFrontiers in genetics2026
Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Axenfeld-Rieger syndrome (ARS) is a multisystem disorder primarily caused by Methods: A 5.4-year-old boy with ocular segment dysgenesis and short stature underwent family-based whole-exome sequencing (WES). Standardized growth hormone (GH) stimulation tests and longitudinal growth dynamics analysis based on 44 precise clinical data points collected from birth to age 7.45 years were performed. A systematic literature review of 10 ARS cases with growth failure was conducted to propose a pathogenic model. Results: WES identified a novel Conclusion: This study reports the one of the most extensive longitudinal follow-up of successful PEG-rhGH therapy in ARS to date. We propose that large 4q25 deletions represent a high-risk genotype for GHD. Mandatory growth monitoring and early endocrine screening are recommended for ARS patients with chromosomal deletions in this region to optimize developmental outcomes.
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