4.4 Review

Early-Onset Osteoporosis

Related references

Note: Only part of the references are listed.
Review Oncology

Factors influencing peak bone mass gain

Xiaowei Zhu et al.

Summary: Bone mass is crucial for osteoporosis and fracture risk. Factors such as race, gender, genetics, and lifestyle habits influence peak bone mass, with lifestyle factors playing a significant role in optimizing bone health and reducing osteoporosis risk in later life. Maximizing peak bone mass in adolescence and young adulthood can help reduce the risk of low bone mass or osteoporosis in the future.

FRONTIERS OF MEDICINE (2021)

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Summary: Discontinuation of denosumab results in increased bone turnover, rapid bone loss, and risk of multiple vertebral fractures in some patients. Prior bisphosphonate therapy or subsequent antiresorptive treatment may help mitigate the biochemical rebound phenomenon after denosumab discontinuation.

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Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

Nadja Fratzl-Zelman et al.

Summary: Patients with WNT1 or PLS3 mutations show unique bone mineralization patterns, with teriparatide having little effect on their bone matrix mineralization or formation. Children exhibit preserved bone formation with heterogeneous mineralization, while adults show low bone turnover with homogenous mineral content.
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Summary: This article discusses the physiological and pathological aspects of hormonal regulation of biomineralization, emphasizing the importance of mineral intake, serum concentrations of mineral, and hormonal regulators in this process. It also highlights the crucial role of biomineralization in providing rigidity and flexibility to the skeleton, and the balance required for proper skeletal metabolism.

NATURE REVIEWS ENDOCRINOLOGY (2021)

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Summary: AIs therapy can lead to bone loss and increased fracture risk, especially in premenopausal women. To ensure bone health in breast cancer patients, it is necessary to assess fracture risk and consider anti-resorptive therapy.

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Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

Manuela G. M. Rocha-Braz et al.

Summary: In a study on the genetic bases of osteoporosis, 28 cases were analyzed with targeted sequencing, revealing only 3 pathogenic or likely pathogenic variants. 21% of cases showed associations of variants in different genes, suggesting challenges in identifying actionable pathogenic variants in intriguing cases of idiopathic or familial osteoporosis.

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Julian Stuerznickel et al.

Summary: This study analyzed the effects of LRP5 and LRP6 variants on early-onset osteoporosis patients, and found that these variants play a significant role in bone mass regulation, leading to osteoporosis, fractures, decreased bone formation, and impaired microarchitecture in a substantial number of individuals.

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Mice lacking plastin-3 display a specific defect of cortical bone acquisition

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Pathogenesis of glucocorticoid-induced osteoporosis and options for treatment

Pojchong Chotiyarnwong et al.

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PLS3Mutations Cause Severe Age and Sex-Related Spinal Pathology

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Pregnancy and newborn outcomes after exposure to bisphosphonates: a case-control study

A. Sokal et al.

OSTEOPOROSIS INTERNATIONAL (2019)

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Riikka E. Makitie et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

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Roberta Besio et al.

FEBS JOURNAL (2019)

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Women With Pregnancy and Lactation-Associated Osteoporosis (PLO) Have Low Bone Remodeling Rates at the Tissue Level

Adi Cohen et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2019)

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Genetic approaches to metabolic bone diseases

Fadil M. Hannan et al.

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY (2019)

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Iordanis Papadopoulos et al.

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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Sheela Nampoothiri et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen et al.

JCI INSIGHT (2019)

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

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Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Tim Rolvien et al.

CALCIFIED TISSUE INTERNATIONAL (2018)

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A novel frameshift deletion in PLS3 causing severe primary osteoporosis

Alice Costantini et al.

JOURNAL OF HUMAN GENETICS (2018)

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Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

Alice Costantini et al.

FRONTIERS IN ENDOCRINOLOGY (2018)

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Glucocorticoid-Induced Osteoporosis

Lenore Buckley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

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Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review

Hanh H. Nguyen et al.

JBMR PLUS (2018)

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Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study

Ville-Valtteri Valimaki et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)

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PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations

Peter Kannu et al.

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PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Anders J. Kampe et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2017)

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Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3

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JOURNAL OF CLINICAL INVESTIGATION (2017)

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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

A. J. Kampe et al.

OSTEOPOROSIS INTERNATIONAL (2017)

Article Medicine, General & Internal

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Joan C. Marini et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Review Rheumatology

Osteoporosis in premenopausal women

Bente L. Langdahl

CURRENT OPINION IN RHEUMATOLOGY (2017)

Article Endocrinology & Metabolism

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Riikka E. Makitie et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2016)

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Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment

Michael P. Whyte

NATURE REVIEWS ENDOCRINOLOGY (2016)

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A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis

Christine M. Laine et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2015)

Review Orthopedics

A new WNT on the bone: WNT16, cortical bone thickness, porosity and fractures

Francesca Gori et al.

BONEKEY REPORTS (2015)

Article Biochemistry & Molecular Biology

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations

Kyu Sang Joeng et al.

HUMAN MOLECULAR GENETICS (2014)

Article Endocrinology & Metabolism

Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause

Natalia Campos-Obando et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Biochemistry & Molecular Biology

Osteoblast-derived WNT16 represses osteoclastogenesis and prevents cortical bone fragility fractures

Sofia Moverare-Skrtic et al.

NATURE MEDICINE (2014)

Article Pediatrics

Optimizing Bone Health in Children and Adolescents

Neville H. Golden et al.

PEDIATRICS (2014)

Article Genetics & Heredity

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Shawna M. Pyott et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

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Endocrine Effects of Anorexia Nervosa

Karen Klahr Miller

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2013)

Review Rheumatology

Causes, mechanisms and management of paediatric osteoporosis

Outi Makitie

NATURE REVIEWS RHEUMATOLOGY (2013)

Article Medicine, General & Internal

PLS3 Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Christine M. Laine et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Review Endocrinology & Metabolism

Recent Advances in Osteogenesis Imperfecta

Tim Cundy

CALCIFIED TISSUE INTERNATIONAL (2012)

Article Endocrinology & Metabolism

Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment

B. Tuysuz et al.

HORMONE RESEARCH IN PAEDIATRICS (2012)

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Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study

Mervi K. Mayranpaa et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2012)

Article Endocrinology & Metabolism

A framework for the development of guidelines for the management of glucocorticoid-induced osteoporosis

S. Lekamwasam et al.

OSTEOPOROSIS INTERNATIONAL (2012)

Review Endocrinology & Metabolism

Osteoporosis in young adults: pathophysiology, diagnosis, and management

S. Ferrari et al.

OSTEOPOROSIS INTERNATIONAL (2012)

Article Endocrinology & Metabolism

Peak Bone Mass From Longitudinal Data: Implications for the Prevalence, Pathophysiology, and Diagnosis of Osteoporosis

Claudie Berger et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2010)

Article Endocrinology & Metabolism

LRP5 Polymorphisms and Response to Risedronate Treatment in Osteoporotic Men

Marcin Kruk et al.

CALCIFIED TISSUE INTERNATIONAL (2009)

Article Endocrinology & Metabolism

International Society for Clinical Densitometry 2007 Adult and Pediatric Official Positions

E. Michael Lewiecki et al.

Article Endocrinology & Metabolism

Osteocyte Shape Is Dependent on Actin Filaments and Osteocyte Processes Are Unique Actin-Rich Projections

Kayo Tanaka-Kamioka et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2006)

Article Endocrinology & Metabolism

LRP5 gene polymorphisms and idiopathic osteoporosis in men

SL Ferrari et al.

Article Endocrinology & Metabolism

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children

H Hartikka et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2005)

Article Medicine, General & Internal

Medical findings in outpatients with anorexia nervosa

KK Miller et al.

ARCHIVES OF INTERNAL MEDICINE (2005)

Article Endocrinology & Metabolism

An update on the diagnosis and assessment of osteoporosis with densitometry

JA Kanis et al.

OSTEOPOROSIS INTERNATIONAL (2000)