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Diagnostics
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Current Diagnosis and Management of Metabolic Bone Diseases
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Current Diagnosis and Management of Metabolic Bone Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 3528

Special Issue Editor

Prof. Dr. Liming Xiong

E-Mail Website
Guest Editor
Department of Orthopaedics, Huazhong University of Science and Technology Tongji Medical College Union Hospital, Wuhan 430022, China
Interests: fractures; osteoporosis; bone infection and defects; diabetic foot; bone regeneration

Special Issue Information

Dear Colleagues,

Metabolic bone diseases (MBDs), including osteoporosis, diabetic osteopathy, and hepatic osteodystrophy, pose a mounting global burden exacerbated by aging and metabolic disorders. This Special Issue addresses critical gaps in the early detection and personalized management of MBDs, frequently undiagnosed until fracture. We invite cutting-edge research on the following areas:

  • How novel biomarkers (bone turnover markers, metabolites, and endocrine/immune factors) enhance diagnostic precision and fracture risk prediction;
  • Imaging innovations, including photon-counting DXA and AI-enhanced bone microarchitecture analysis, which surpass BMD limitations for fracture risk stratification;
  • Pharmacotherapy innovations, including GLP-1 receptor agonists, improving BMD/fracture risk in diabetes and the skeletal safety of anti-diabetic drugs;
  • Multiorgan–bone axis mechanisms wherein bone acts as an endocrine/metabolic hub, dynamically interacting with the liver, brain, kidneys, and so on via osteokines to fine-tune systemic homeostasis.

This Special Issue bridges translational research and clinical practice to advance risk stratification, treatment monitoring, and precision interventions. Submissions on genomic/proteomic studies, AI-driven diagnostics, and multidisciplinary approaches are encouraged.

Prof. Dr. Liming Xiong
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • metabolic bone disease
  • bone turnover markers
  • maintenance of bone homeostasis
  • multiorgan–bone axis
  • fracture risk assessment
  • diabetic osteopathy
  • precision management

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Published Papers (3 papers)

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Research

28 pages, 2173 KB  
Article
The Relationship Between Bone Health Status of Post-Menopausal Women with Non-Functional Adrenal Tumours/Mild Autonomous Cortisol Secretion and Their Baseline Morning Adrenocorticotropic Level
by Alexandra-Ioana Trandafir, Oana-Claudia Sima, Nina Ionovici, Dana Manda, Mihai Costachescu and Mara Carsote
Diagnostics 2026, 16(2), 180; https://doi.org/10.3390/diagnostics16020180 - 6 Jan 2026
Viewed by 819
Abstract
Background. Glucocorticoid-induced osteoporosis represents a well-known type of secondary osteoporosis (SOp). While the most prevalent sub-category includes corticotherapy, another important contributor is represented by Cushing’s syndrome. In this traditional landscape, adrenal incidentalomas do not involve a standard cause of SOp, since most [...] Read more.
Background. Glucocorticoid-induced osteoporosis represents a well-known type of secondary osteoporosis (SOp). While the most prevalent sub-category includes corticotherapy, another important contributor is represented by Cushing’s syndrome. In this traditional landscape, adrenal incidentalomas do not involve a standard cause of SOp, since most of them are non-functioning adrenal tumours (NFATs). Yet, 30–40% of them are not entirely “non-functioning”, due to mild autonomous cortisol secretion (MACS). Despite not being a guideline-based diagnosis, a lower ACTH might point to various NFATs/MACS complications. Objective. This study aimed to determine the relationship between the bone health status of post-menopausal women with NFATs/MACS and their baseline morning ACTH level. The bone health indicators were DXA, FRAX, and bone remodelling markers. Methods. This was a retrospective, real-life, transversal study in adult females who were hospitalized in a single tertiary centre of endocrinology. They were all anti-osteoporotic drug-naïve. The subjects underwent CT and DXA scanning and a 1 mg dexamethasone suppression test (DST). Results. The cohort (sample size of N = 84 patients, 61.49 ± 7.86 years) had a type 2 diabetes rate of 18%, arterial hypertension rate of 75%, and a dyslipidemia rate of 78%. Median ACTH was 11.89 pg/mL. The prevalence of MACS was 30.95%. The mean largest tumour diameter (LTD) was 2.25 ± 0.99 cm. ACTH correlated with second-day cortisol after the 1 mg DST (r = −0.301, p = 0.024), and LTD (r = −0.434, p < 0.001). ROC analysis for the bone resorption marker CrossLaps showed an AUC of 0.647 (p = 0.05), with the highest Youden index for the cut-off at 0.32 ng/mL (sensitivity 87.50%, specificity 39.50%). Bone impairment (osteoporosis + osteopenia) was found in 65% of patients, with an osteoporotic fracture prevalence of 4.76%. The lowest mean T-score (−1.12 ± 1.00) showed osteopenia, and the median trabecular bone score pointed a partially degraded microarchitecture [median (interquartile interval): 1.320 (1.230, 1.392)]. FRAX and FRAXplus estimations correlated with bone mineral density (BMD) at all three central DXA sites, regardless of the ACTH cut-off. Patients with a low ACTH (<10 pg/mL) displayed similar bone/adrenal features when compared to those with normal ACTH, except forbut they had a higher MACS rate (45.45% versus 21.57%, p = 0.021) and a larger LTD (2.67 ± 0.98 versus 1.98 ± 0.92 cm, p = 0.003). Fracture estimation showed that only in patients with a low ACTH, the 10-year fracture risk for major osteoporotic fractures (MOF) adjusted for lumbar BMD was lower than the risk for MOF adjusted for diabetes (p = 0.036), and the 10-year hip fracture risk was lower when adjusted for lumbar BMD (p = 0.007). ACTH correlated with lumbar BMD (r = 0.591, p = 0.002) only in the group with an ACTH < 10 pg/mL, suggesting its potential usefulness as a bone biomarker in these cases. On the other hand, MACS-negative subjects with a low ACTH versus those with a normal ACTH showed higher CrossLaps (0.60 ± 0.27 versus 0.42 ± 0.21 ng/mL, p = 0.022), indicating an elevated bone resorption even in patients with tumours that are regarded as true non-secretors. Conclusions. A subgroup of patients diagnosed with NFATs/MACS might be prone to skeletal damage, and biomarkers such as ACTH (specifically, suppressed ACTH) might serve as a surrogate pointer to help refine this higher risk in daily practice. Further research to address other ACTH cut-offs will place ACTH assays in the overall bone status evaluation in these patients, most probably not as a single biomarker, but in addition to other assays. Full article
(This article belongs to the Special Issue Current Diagnosis and Management of Metabolic Bone Diseases)
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22 pages, 5740 KB  
Article
Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women
by Su Kang Kim, Seoung-Jin Hong, Seung Il Song, Jeong Keun Lee, Gyutae Kim, Byung-Joon Choi, Suyun Seon, Seung Jun Kim, Ju Yeon Ban and Sang Wook Kang
Diagnostics 2026, 16(1), 153; https://doi.org/10.3390/diagnostics16010153 - 3 Jan 2026
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Abstract
Background: Osteoporosis is highly prevalent in postmenopausal women, yet genome-wide association studies often miss disease-relevant variants because of incomplete single nucleotide polymorphism (SNP) coverage and platform-specific limitations. We aimed to identify genetic contributors to osteoporosis risk by integrating two exome-based genotyping platforms with [...] Read more.
Background: Osteoporosis is highly prevalent in postmenopausal women, yet genome-wide association studies often miss disease-relevant variants because of incomplete single nucleotide polymorphism (SNP) coverage and platform-specific limitations. We aimed to identify genetic contributors to osteoporosis risk by integrating two exome-based genotyping platforms with multilayer analytic approaches. Methods: We analyzed extreme osteoporosis phenotypes in Korean postmenopausal women from the Korean Genome and Epidemiology Study (KoGES) Ansan–Anseong cohorts using the Illumina Infinium HumanExome BeadChip and the Affymetrix Axiom Exome Array. After standard quality control, single-SNP logistic regression, cross-platform overlap analysis, and three machine-learning models were applied. Predicted functional impact was evaluated using multiple in silico algorithms and conservation scores. Finally, datasets from both platforms were merged, and cross-platform linkage disequilibrium (LD) blocks were defined to identify loci containing SNPs with p < 1 × 10−4. Results: No overlapped SNP reached genome-wide significance, but rs2076212 in PNPLA3 achieved suggestive significance (p < 1 × 10−5) only on the Illumina array. Cross-platform analysis identified 111 overlapping SNPs in 70 genes. Integrated machine-learning, in silico, and conservation evidence prioritized ARMS2, CCDC92, NQO1, ZNF510, PTPRB, and DYNC2H1 as candidate genes. LD-block analysis revealed 10 blocks with at least one SNP at p < 1 × 10−4, including four chromosome 12 loci (NAV2, BICD1, CCDC92, ZNF664) that became apparent only when LD patterns were evaluated jointly across platforms. Conclusions: Combining dual exome arrays with LD-block analysis, machine learning, and functional prediction improved sensitivity for detecting low bone mineral density-related loci and highlighted CCDC92, DYNC2H1, NQO1, and related genes as biologically plausible candidates for future validation. Full article
(This article belongs to the Special Issue Current Diagnosis and Management of Metabolic Bone Diseases)
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14 pages, 1488 KB  
Article
Association of Hemoglobin to Red Blood Cell Distribution Width Ratio and Total Bone Mineral Density in U.S. Adolescents: The NHANES 2011–2018
by Tianhao Guo, Jiheng Xiao, Xinjun Yao, Jiangbo Bai and Yadong Yu
Diagnostics 2025, 15(20), 2567; https://doi.org/10.3390/diagnostics15202567 - 12 Oct 2025
Viewed by 1341
Abstract
Background: The hemoglobin-to-red-cell distribution width ratio has emerged as a novel prognostic marker in various clinical settings. However, its association with total bone mineral density in adolescents remains inadequately explored. Methods: This cross-sectional study was based on data from the 2011–2018 [...] Read more.
Background: The hemoglobin-to-red-cell distribution width ratio has emerged as a novel prognostic marker in various clinical settings. However, its association with total bone mineral density in adolescents remains inadequately explored. Methods: This cross-sectional study was based on data from the 2011–2018 National Health and Nutrition Examination Survey, including adolescents aged 12–19 years with complete data on hemoglobin, red cell distribution width, and total bone mineral density. Weighted multivariable linear regression models and generalized additive models were used to evaluate the association between hemoglobin-to-red-cell distribution width and total bone mineral density. A two-piecewise linear regression model was applied to assess potential threshold effects, with log-likelihood ratio tests used to determine the significance of inflection points. Subgroup and interaction analyses were further conducted to examine whether age, sex, race, and milk product consumption modified this association. Results: A total of 3789 adolescents were included. Participants in the highest hemoglobin-to-red-blood-cell distribution width ratio quartile had significantly higher hemoglobin levels, lower red blood cell distribution width, greater total bone mineral density, higher total calcium and blood urea nitrogen levels, and lower body mass index, high-density lipoprotein cholesterol, and serum 25OHD levels compared to lower quartiles. The hemoglobin-to-red-blood-cell distribution width ratio was positively associated with total bone mineral density (fully adjusted β = 0.078, 95% CI: 0.053, 0.104, p < 0.0001). A two-piecewise linear regression model identified an inflection point at the hemoglobin-to-red-cell distribution width ratio = 1.055; the positive association became stronger above this threshold (β = 0.143 vs. β = 0.039 below the threshold, p = 0.003 for nonlinearity). Subgroup analysis revealed significant gender interactions (p < 0.0001). A higher HRR was significantly associated with greater total BMD in males (β = 0.130, 95% CI: 0.089–0.171, p < 0.0001), whereas no significant association was observed in females (β = −0.009, 95% CI: −0.043–0.025, p = 0.604). Positive associations were also observed among participants aged 12–15 years, non-Hispanic Whites, non-Hispanic Blacks, other Hispanics, Mexican Americans, and frequent milk consumers. Conclusions: Our results indicate that the hemoglobin-to-red-cell distribution width ratio shows a potential association with bone mineral density in male adolescents, which may offer supportive value for bone health assessment but requires further validation. Full article
(This article belongs to the Special Issue Current Diagnosis and Management of Metabolic Bone Diseases)
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