Evidence map›Paper›PMID 37668887›Full record

ReviewJournal of endocrinological investigation2024

Bone fragility and osteoporosis in children and young adults.

M M Formosa, M A Christou, O Mäkitie

Open access · hybridAbstract readReview
In one paragraph

Review in Journal of endocrinological investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 4 pooled it
14.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Pooled it
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  5. Review
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  9. Article
  10. Multimorbidity patterns among fragility fracture patients aged 50 + years in China and the US.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026
    Article
  11. Fifteen-minute consultation: Modern diagnostic approach to the child with recurrent fractures.Archives of disease in childhood. Education and practice edition · 2026
    Article
  12. Article
  13. New lens on congenital mild bone fragility: a novel Col1a1 knockout mouse model for osteogenesis imperfecta type 1.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  14. Article
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  18. Review
  19. PathogenicFrontiers in endocrinology · 2026
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 5 countries.

M M FormosaDepartment of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.ORCID http://orcid.org/0000-0002-7852-2701
M A ChristouDepartment of Endocrinology, School of Medicine, University of Ioannina, Ioannina, Greece.ORCID http://orcid.org/0000-0003-0398-0051
O MäkitieChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. outi.makitie@helsinki.fi.ORCID http://orcid.org/0000-0002-4547-001X
Karolinska University Hospital · SEUniversity of Ioannina · GRUniversity of Malta · MT

Funding

Malta Council for Science and Technology R&I-2019-018TMalta Council for Science and Technology R&I-2022-007L
6 · The paper itself

Abstract

Osteoporosis is a metabolic bone disorder which increases fragility fracture risk. Elderly individuals, especially postmenopausal women, are particularly susceptible to osteoporosis. Although rare, osteoporosis in children and young adults is becoming increasingly evident, highlighting the need for timely diagnosis, management and follow-up. Early-onset osteoporosis is defined as the presence of a low BMD (Z-score of ≤ -2.0 in individuals aged < 20 years; T-score of ≤ -2.5 in those aged between 20 to 50 years) accompanied by a clinically significant fracture history, or the presence of low-energy vertebral compression fractures even in the absence of osteoporosis. Affected children and young adults should undergo a thorough diagnostic workup, including collection of clinical history, radiography, biochemical investigation and possibly bone biopsy. Once secondary factors and comorbidities are excluded, genetic testing should be considered to determine the possibility of an underlying monogenic cause. Defects in genes related to type I collagen biosynthesis are the commonest contributors of primary osteoporosis, followed by loss-of-function variants in genes encoding key regulatory proteins of canonical WNT signalling (specifically LRP5 and WNT1), the actin-binding plastin-3 protein (encoded by PLS3) resulting in X-linked osteoporosis, and the more recent sphingomyelin synthase 2 (encoded by SGMS2) which is critical for signal transduction affecting sphingomyelin metabolism. Despite these discoveries, genetic causes and underlying mechanisms in early-onset osteoporosis remain largely unknown, and if no causal gene is identified, early-onset osteoporosis is deemed idiopathic. This calls for further research to unravel the molecular mechanisms driving early-onset osteoporosis that consequently will aid in patient management and individualised targeted therapy.

Indexed as

Fractures, CompressionOsteoporosisSpinal FracturesAdultAgedBone DensityChildFemaleHumansMiddle AgedWnt Signaling PathwayYoung AdultBone massDXAEarly-onset osteoporosisFragility fracturesGenetic testingIdiopathic osteoporosisOsteogenesis imperfectaSecondary osteoporosis

Identifiers

PMID37668887
PMCPMC10859323
OpenAlexW4386438371

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.