{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pediatric Endocrinology, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, 27010 Gaziantep, Türkiye.",
    "Department of Pediatric Endocrinology, Faculty of Medicine, Gaziantep University, 27080 Gaziantep, Türkiye."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Serpil Albayrak",
      "orcid": "0000-0003-3368-6451"
    },
    {
      "affs": [
        1
      ],
      "name": "Murat Karaoglan"
    },
    {
      "affs": [
        1
      ],
      "name": "Ahmet Yildirim"
    },
    {
      "affs": [
        1
      ],
      "name": "Mehmet Keskin"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/1sf0c5f8azwj4.bib",
  "cited_by": 0,
  "doi": "10.3390/genes17101279",
  "fulltext_url": "https://europepmc.org/articles/PMC13703992",
  "id": "1sf0c5f8azwj4",
  "issns": [
    "2073-4425"
  ],
  "landing_url": "https://europepmc.org/article/MED/42938395",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2712|Growth Hormone and Insulin-like Growth Factors"
    ]
  ],
  "openalex": "W7221802026",
  "pdf_url": "https://europepmc.org/articles/PMC13703992?pdf=render",
  "pmcid": "PMC13703992",
  "pmid": "42938395",
  "published": "2026-10-14",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/1sf0c5f8azwj4.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:12Z",
      "native_id": "MED:42938395",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42938395"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2712|Growth Hormone and Insulin-like Growth Factors",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy.",
  "title_text": "Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:12Z",
  "url": "https://research.draconitic.com/paper/1sf0c5f8azwj4",
  "venue": "Genes",
  "versions": []
}