Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy.
- 1Department of Pediatric Endocrinology, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, 27010 Gaziantep, Türkiye.
- 2Department of Pediatric Endocrinology, Faculty of Medicine, Gaziantep University, 27080 Gaziantep, Türkiye.
Abstract
Background: Growth hormone (GH) stimulation tests have limited diagnostic precision in childhood short stature (SS), and the relationships among endocrine phenotype, GH1 variation, and long-term treatment response remain unclear. We examined the clinical, endocrine, genetic, and five-year growth outcomes of children receiving recombinant GH. Methods: In this retrospective cohort study, 74 children with SS were classified as idiopathic SS (ISS; n = 28) or growth hormone deficiency (GHD; n = 46) using available GH stimulation-test results together with the integrated clinical, auxological, biochemical, radiological, and treatment-eligibility assessments documented in the medical records. Results: Median annual height velocity was 9.0 cm/year, median height gain was 1.80 standard deviation scores (SDS), and median IGF-1 increased from 125.5 to 306 µg/L. GH dose, endocrine parameters, annual height velocity, height gain SDS, and mean post-treatment height and weight gain did not differ significantly between groups. Height and weight increased over follow-up (both p < 0.001), with no significant group or time-by-group interaction. GH1 sequencing predominantly identified common promoter/upstream and intronic polymorphisms; no pathogenic or likely pathogenic variants were detected. Exploratory genetic clustering showed no clinically meaningful association with endocrine phenotype or treatment response. Conclusions: Adjusted models detected no statistically significant between-group differences in height or weight trajectories. This finding does not establish equivalent treatment efficacy.
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BibTeX
@article{albayrak2026endocrine,
title = {{Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy.}},
author = {Serpil Albayrak and Murat Karaoglan and Ahmet Yildirim and Mehmet Keskin},
journal = {Genes},
year = {2026},
month = oct,
doi = {10.3390/genes17101279},
url = {https://europepmc.org/article/MED/42938395},
note = {CC BY},
}
RIS
TY - JOUR
TI - Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy.
AU - Serpil Albayrak
AU - Murat Karaoglan
AU - Ahmet Yildirim
AU - Mehmet Keskin
PY - 2026
DA - 2026/10/14
JO - Genes
DO - 10.3390/genes17101279
UR - https://europepmc.org/article/MED/42938395
AB - Background: Growth hormone (GH) stimulation tests have limited diagnostic precision in childhood short stature (SS), and the relationships among endocrine phenotype, GH1 variation, and long-term treatment response remain unclear. We examined the clinical, endocrine, genetic, and five-year growth outcomes of children receiving recombinant GH. Methods: In this retrospective cohort study, 74 children with SS were classified as idiopathic SS (ISS; n = 28) or growth hormone deficiency (GHD; n = 46) using available GH stimulation-test results together with the integrated clinical, auxological, biochemical, radiological, and treatment-eligibility assessments documented in the medical records. Results: Median annual height velocity was 9.0 cm/year, median height gain was 1.80 standard deviation scores (SDS), and median IGF-1 increased from 125.5 to 306 µg/L. GH dose, endocrine parameters, annual height velocity, height gain SDS, and mean post-treatment height and weight gain did not differ significantly between groups. Height and weight increased over follow-up (both p < 0.001), with no significant group or time-by-group interaction. GH1 sequencing predominantly identified common promoter/upstream and intronic polymorphisms; no pathogenic or likely pathogenic variants were detected. Exploratory genetic clustering showed no clinically meaningful association with endocrine phenotype or treatment response. Conclusions: Adjusted models detected no statistically significant between-group differences in height or weight trajectories. This finding does not establish equivalent treatment efficacy.
SN - 2073-4425
ER -