ReviewChildren (Basel, Switzerland)2025
Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene Variants.
Review in Children (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Efficacy and Safety of PEGylated Recombinant Human Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature: A Real-World Cohort Study.International journal of endocrinology · 2026Article
- Comparative Efficacy and Safety of Once-Weekly Pegylated Recombinant Human Growth Hormone Versus Daily Growth Hormone Therapy in Children: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2025Review
- Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.European journal of pediatrics · 2025Article
- Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Genetic Variability in Child Growth Among South American Populations: A Perspective Integrating Population Genetics, Growth Standards, and Precision Growth Medicine.International journal of molecular sciences · 2025Review
- Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.Biomedicines · 2025Review
- Construction and evaluation of a height prediction model for children with growth disorders treated with recombinant human growth hormone.BMC endocrine disorders · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAmong the potential indications for growth hormone (GH) therapy is the presence of mutations in the SHOX (short stature homeobox-containing) gene, located in the telomeric pseudotautosomal region (PAR1) on the short arm of both sex chromosomes. Despite general recommendations supporting GH therapy in these cases, there is a lack of comprehensive evidence specifically evaluating its efficacy and safety in this subgroup of pediatric patients.
aimThe objective of this scoping review was to evaluate the efficacy and safety of growth hormone therapy in patients with SHOX gene variants, providing a narrative synthesis of the included studies. MATERIALS AND
methodsThis scoping review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) extension for scoping reviews. We summarized information extracted from 22 articles identified by our search strategy. Currently, only one randomized clinical trial has analyzed the efficacy profile of GH in patients with SHOX mutations.
resultsGrowth hormone is a valuable therapeutic aid for these patients. However, its prescription in children with SHOX gene mutations should consider the specific characteristics of each patient, similar to the approach taken for patients with idiopathic growth hormone deficiency (GHD).
conclusionGrowth hormone therapy in patients with SHOX gene alterations appears to be both safe and effective. However, longitudinal prospective studies and targeted clinical trials are necessary to confirm these findings. Despite this, GH remains one of the preferred hormonal therapies for patients with short stature and confirmed SHOX gene mutations.
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