{
  "abstract": "Background\n\nPregnancy and lactation-associated osteoporosis (PLO) is a rare disorder causing rapid bone loss and severe fragility fractures. While familial clusterings suggest genetic susceptibility, the specific clinical features, genetic landscape, and skeletal recovery trajectory of PLO remain poorly characterized in non-Caucasian populations. This study aimed to evaluate a Taiwanese PLO cohort to optimize diagnostic awareness.Methods\n\nEleven postpartum women with PLO were evaluated using bone densitometry and spinal imaging. Whole-exome sequencing was performed utilizing a targeted 398-gene skeletal disease virtual panel. Patients were followed longitudinally for a median of 25 months during lactation cessation and/or targeted bone therapy.Results\n\nSeven women developed symptoms after their first pregnancy and four after their second. Vertebral fractures occurred in 91% (10/11) of patients, 80% (8/10) of whom had multi-level involvement predominantly localized to the thoracolumbar spine (T3-L5, peaking at T11-L2). Baseline lumbar bone mineral density (BMD) was significantly lower than hip sites (P = 0.018). Genetic variants were identified in 10 of 11 patients (91%), with six individuals harboring pathogenic variants in WNT1, LRP5, COL10A1, LTBP3, and CALCR. Patients with pathogenic variants exhibited significantly lower lumbar spine BMD than those without (Z-scores: -3.7 vs. -3.0; P = 0.043). Post-treatment, the cohort's median Z-score improved from -3.5 to -2.3 (P = 0.005), though none achieved a score above -1.0.Conclusions\n\nOur findings suggest a significant genetic burden associated with PLO, potentially revealed by pregnancy and lactation stressors. The predominance of vertebral bone loss highlights acute postpartum back pain as a notable clinical sign warranting further investigation. Optimizing long-term maternal outcomes may require rapid diagnostic evaluation, prompt lactation cessation, and the future integration of genotype-informed management strategies.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.",
    "Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan.",
    "Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.",
    "Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.",
    "Department of Orthopedic Surgery, National Taiwan University Hospital, Taipei, Taiwan.",
    "Department of Metabolism and Endocrinology, Taipei City Hospital, Renai Branch, Taipei, Taiwan.",
    "Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.",
    "Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Wei-Yih Chiu"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Yu-An Chen"
    },
    {
      "affs": [
        0
      ],
      "name": "Shyang-Rong Shih"
    },
    {
      "affs": [
        4
      ],
      "name": "Rong-Sen Yang"
    },
    {
      "affs": [
        4
      ],
      "name": "Ming-Hsiao Hu"
    },
    {
      "affs": [
        5
      ],
      "name": "Wen-Ping Yang"
    },
    {
      "affs": [
        0,
        2,
        6
      ],
      "name": "Pei-Lung Chen"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Keh-Sung Tsai"
    },
    {
      "affs": [
        0,
        7
      ],
      "name": "Wei-Shiung Yang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0pkwvywg01n53.bib",
  "cited_by": 0,
  "doi": "10.3389/fendo.2026.1930247",
  "fulltext_url": "https://europepmc.org/articles/PMC13680257",
  "id": "0pkwvywg01n53",
  "issns": [
    "1664-2392"
  ],
  "landing_url": "https://europepmc.org/article/MED/42903217",
  "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",
      "2732|Bone health and osteoporosis research"
    ]
  ],
  "openalex": "W7220683509",
  "pdf_url": "https://europepmc.org/articles/PMC13680257?pdf=render",
  "pmcid": "PMC13680257",
  "pmid": "42903217",
  "published": "2026-10-06",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/0pkwvywg01n53.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:57Z",
      "native_id": "MED:42903217",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42903217"
    },
    {
      "first_seen": "2026-10-30T12:20:20Z",
      "native_id": "10.3389/fendo.2026.1930247",
      "source": "crossref",
      "url": "https://www.frontiersin.org/articles/10.3389/fendo.2026.1930247/full"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2732|Bone health and osteoporosis research",
      "subfield": "surgery"
    }
  ],
  "title": "High genetic predisposition and vertebral fracture burden in pregnancy and lactation-associated osteoporosis: clinical insights from a Taiwanese cohort.",
  "title_text": "High genetic predisposition and vertebral fracture burden in pregnancy and lactation-associated osteoporosis: clinical insights from a Taiwanese cohort.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:20Z",
  "url": "https://research.draconitic.com/paper/0pkwvywg01n53",
  "venue": "Frontiers in endocrinology",
  "versions": []
}