{
  "abstract": "Background/Objectives: Sex chromosome aneuploidies (SCAs)—including Turner syndrome, Klinefelter syndrome, Trisomy X (47,XXX), and 47,XYY (Jacobs) syndrome—are among the most common chromosomal conditions in humans. The available evidence on skeletal health in SCAs is heterogeneous and varies substantially across conditions. Although skeletal abnormalities and increased fracture risk are well documented in Turner syndrome, pediatric evidence in Klinefelter syndrome and Trisomy X remains limited, while dedicated skeletal data for 47,XYY are essentially absent. This narrative review summarizes current evidence on bone health in children and adolescents with the major SCAs. Methods: A structured literature search of PubMed/MEDLINE, Embase, and the Cochrane Library was conducted, supplemented by backward and forward citation tracking. Pediatric studies were prioritized, while adult and mechanistic studies were included when necessary to address evidence gaps. Owing to the narrative design, no formal risk-of-bias assessment or quantitative synthesis was performed. Results: Pediatric evidence is most extensive for Turner syndrome, in which fracture risk and bone mineral status are influenced by ovarian insufficiency, growth, body size, comorbidities, and treatment exposure. Direct pediatric skeletal evidence for Klinefelter syndrome and Trisomy X remains limited and heterogeneous, deriving from small observational studies and, for Klinefelter syndrome, a randomized interventional trial. Dedicated data for 47,XYY syndrome are essentially absent. Interpretation of dual-energy X-ray absorptiometry requires particular attention to short stature, tall stature, and pubertal delay. Conclusions: Clinical assessment should be individualized, with attention to endocrine and nutritional factors, appropriate interpretation of bone imaging, and promotion of bone-healthy lifestyle measures. Further prospective pediatric studies are needed to clarify fracture risk, monitoring strategies, and treatment effects across SCAs.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy",
    "Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy",
    "Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy",
    "Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, Italy",
    "Institute of Biochemistry and Cell Biology (IBBC-CNR), c/o Department of Sensory Organs, Sapienza University of Rome, 00161 Rome, Italy"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Roberto Paparella",
      "orcid": "0000-0001-7020-1471"
    },
    {
      "affs": [
        1
      ],
      "name": "Fabiola Panvino",
      "orcid": "0009-0007-2683-0052"
    },
    {
      "affs": [
        0
      ],
      "name": "Vittorio Maglione",
      "orcid": "0000-0003-2404-2806"
    },
    {
      "affs": [
        0
      ],
      "name": "Francesca Tarani",
      "orcid": "0009-0004-3249-2238"
    },
    {
      "affs": [
        2
      ],
      "name": "Marcello Niceta",
      "orcid": "0000-0003-4766-7753"
    },
    {
      "affs": [
        3
      ],
      "name": "Debora Rasio"
    },
    {
      "affs": [
        0
      ],
      "name": "Ida Pucarelli"
    },
    {
      "affs": [
        4
      ],
      "name": "Marco Fiore",
      "orcid": "0000-0001-6806-9715"
    },
    {
      "affs": [
        0
      ],
      "name": "Luigi Tarani",
      "orcid": "0000-0001-5958-9364"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/00p76wjkmywwr.bib",
  "cited_by": 0,
  "doi": "10.3390/jcm15218684",
  "fulltext_url": null,
  "id": "00p76wjkmywwr",
  "issns": [
    "2077-0383"
  ],
  "landing_url": "https://www.mdpi.com/2077-0383/15/21/8684",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-07",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/00p76wjkmywwr.ris",
  "sources": [
    {
      "first_seen": "2026-11-10T00:21:41Z",
      "native_id": "10.3390/jcm15218684",
      "source": "crossref",
      "url": "https://www.mdpi.com/2077-0383/15/21/8684"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "journal-openalex:F27",
      "subfield": "general"
    }
  ],
  "title": "Bone Health in Children and Adolescents with Sex Chromosome Aneuploidies: A Narrative Review",
  "title_text": "Bone Health in Children and Adolescents with Sex Chromosome Aneuploidies: A Narrative Review",
  "type": "peer-reviewed",
  "updated_at": "2026-11-10T00:21:41Z",
  "url": "https://research.draconitic.com/paper/00p76wjkmywwr",
  "venue": "Journal of Clinical Medicine",
  "versions": []
}