ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2018
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Clinical presentation, risk factors and management of pregnancy-associated osteoporosis: a systematic review and meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Pooled it
- Pregnancy- and lactation-associated osteoporosis with vertebral fractures: a systematic review.BMC musculoskeletal disorders · 2021Pooled it
- Bilateral Transient Osteoporosis of the Hip in Pregnancy: Diagnostic Challenges, MRI-Based Approach, and Multidisciplinary Management.Diseases (Basel, Switzerland) · 2026Article
- Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).Bone · 2026Article
- Pregnancy and Lactation Associated Bone Fragility.Journal of the Endocrine Society · 2025Review
- Height loss, back pain and severe pain are highly predictive of pregnancy associated osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.Current osteoporosis reports · 2025Review
- Gene Variants and Bisphosphonates Treatment in Pregnancy and Lactation-Associated Osteoporosis (PLO): A Retrospective Study of 22 Chinese Patients.Calcified tissue international · 2025Article
- Complex clinical encounter series: osteoporosis presenting during pregnancy and lactation: wait and reassess.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Minodronate for severe multiple vertebral fractures due to pregnancy- and lactation-associated osteoporosis: a case report and literature review.Therapeutic advances in musculoskeletal disease · 2024Article
- Clinical Features, Incidence and Treatment Outcome in Pregnancy-Associated Osteoporosis: A Single-Centre Experience over Two Decades.Calcified tissue international · 2023Article
- Article
- Recent Insights into Pregnancy and Lactation-Associated Osteoporosis (PLO).International journal of women's health · 2023Review
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.The Journal of clinical endocrinology and metabolism · 2022Article
- Effect of Teriparatide on Subsequent Fracture and Bone Mineral Density in 47 Women with Pregnancy- and Lactation-associated Osteoporosis and Vertebral Fractures.Geburtshilfe und Frauenheilkunde · 2022Article
- Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of theFrontiers in endocrinology · 2022Article
- A novel mutation in collagen gene COL1A2 associated with transient regional osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Article
- Pregnancy- and lactation-associated vertebral compression fractures: MRI prevalence and characteristics.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Observational
- Pregnancy and lactation, a challenge for the skeleton.Endocrine connections · 2020Review
- Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
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10 authors at 2 institutions in 1 country.
Funding
Abstract
Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery.
introductionPregnancy-associated osteoporosis (PAO) is a rare skeletal condition, which is characterized by a reduction in bone mineral density (BMD) in the course of pregnancy and lactation. Typical symptoms include vertebral compression fractures and transient osteoporosis of the hip. Since the etiology is not well understood, this prospective study was conducted in order to elucidate the relevance of pathogenic gene variants for the development of PAO.
methodsSeven consecutive cases with the diagnosis of PAO underwent a skeletal assessment (blood tests, DXA, HR-pQCT) and a comprehensive genetic analysis using a custom-designed gene panel.
resultsAll cases showed a reduced BMD (DXA T-score, lumbar spine - 3.2 ± 1.0; left femur - 2.2 ± 0.5; right femur - 1.9 ± 0.5), while the spine was affected more severely (p < 0.05). The trabecular and cortical thickness was overall reduced in HR-pQCT, while the trabecular number showed no alterations in most cases. The genetic analysis revealed three novel mutations in LRP5, COL1A1, and COL1A2.
conclusionOur data show that previously unrecognized monogenic bone disorders play an important role in PAO. Pregnancy should be considered a skeletal risk factor, which can promote the initial clinical onset of such skeletal disorders. The underlying increased calcium demand is essential in terms of prophylactic and therapeutic measures, which are especially required in individuals with a genetically determined low bone mass. The implementation of this knowledge in clinical practice can enable the partial recovery of the skeleton. Consistent genetic studies are needed to analyze the frequency of pathogenic variants in women with PAO.
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