{
  "abstract": "Background/Objective: Snyder-Robinson syndrome (SRS) is an extremely rare X-linked genetic disorder caused by mutations in the spermine synthase (SMS) gene. SMS gene encodes SMS enzyme which is essential for producing spermine, a polyamine that plays a crucial role in various cellular functions like growth and repair. Patients often present with intellectual disability, hypotonia, seizures, scoliosis, and progressive bone fragility.\n\nCase report: We report the case of a 22-year-old male who presented with multiple fragility fractures and osteogenesis imperfecta-like features that was ultimately confirmed to have SRS.\n\nDiscussion: Despite long-term bisphosphonate therapy, the patient developed more fragility fractures and transitioned to anabolic therapy with abaloparatide with stable laboratory parameters and no new interval fractures.\n\nConclusion: This case highlights the endocrine-related manifestations of the syndrome, therapeutic challenges, and the importance of multidisciplinary management in rare metabolic bone disorders.",
  "abstract_shown": true,
  "affiliations": [
    "Universidad Espíritu Santo, Samborondón, Ecuador",
    "Texas Diabetes Institute-University Health, University of Texas Health San Antonio, San Antonio, Texas"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Ana Cristina Macías"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Marilyn Arosemena"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5w129xxba1b2v.bib",
  "cited_by": 0,
  "doi": "10.1016/j.aed.2026.07.012",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13728298/",
  "id": "5w129xxba1b2v",
  "issns": [
    "3050-9157"
  ],
  "landing_url": "https://doi.org/10.1016/j.aed.2026.07.012",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "1311|Connective tissue disorders research"
    ]
  ],
  "openalex": "W7171997874",
  "pdf_url": null,
  "pmcid": "PMC13728298",
  "pmid": "42978802",
  "published": "2026-07-31",
  "publisher": "American Association of Clinical Endocrinology",
  "ris": "https://research.draconitic.com/paper/5w129xxba1b2v.ris",
  "sources": [
    {
      "first_seen": "2026-11-06T12:24:00Z",
      "native_id": "PMC13728298",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.aed.2026.07.012"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Connective tissue disorders research",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review",
  "title_text": "Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:19Z",
  "url": "https://research.draconitic.com/paper/5w129xxba1b2v",
  "venue": "AACE Endocrinology and Diabetes",
  "versions": []
}