ArticleJournal of the Endocrine Society2026
Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency.
Article in Journal of the Endocrine Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed.
- Growth hormone deficiency in children: divergence between clinical/laboratory evaluation and genetic architecture.Journal of the Endocrine Society · 2026Article
- Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency.Journal of the Endocrine Society · 2026Article
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14 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Context: Growth hormone (GH) stimulation tests have limited reliability and may lead to false-positive results. Objective: This work aimed to evaluate genetic causes of short stature in children clinically diagnosed with GH deficiency (GHD) and assess genotype-phenotype correlations. Methods: A retrospective single-center study was conducted including 233 children with clinically diagnosed primary GHD treated with GH for 5 years or more. Genetic testing was performed using a targeted next-generation sequencing panel of 398 growth-associated genes. Results: A genetic cause was identified in 39 of 233 (17%) children. Only 13 of 39 (33%) findings confirmed GHD (genes Conclusion: The population of children clinically diagnosed with GHD is genetically heterogeneous. A statistically significant proportion harbors defects in RAS-MAPK signaling or growth plate disorders, highlighting the limitations of current methods of GHD diagnostics.
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