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September 10, 2025BiomedicinesOpen Access

Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies

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Genetic testing improves diagnosis and management of growth hormone deficiency and short stature.
Next-generation sequencing helps identify genetic etiologies linked to growth hormone and insulin growth factor-1.
Recent advances have authorized the identification of multiple genes influencing growth hormone pathways.
Prioritization of genetic tests is vital for cases with strong suspicion of monogenic causes related to growth.

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This review explores genetic testing and growth hormone deficiency in pediatric short stature, suggesting new diagnostic strategies.

Arzilli et al. (2025) studied this question.

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