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Body composition, trabecular bone score and vertebral fractures in subjects with Klinefelter syndrome

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Abstract

Background

Klinefelter syndrome (KS) frequently causes skeletal fragility characterized by profound alterations in bone microstructure with increased risk of fractures. Increased body fat mass associated with decreased body lean mass are frequent features of KS with possible detrimental effects on skeletal health. In this cross-sectional study, we evaluated the associations between body composition parameters, vertebral fractures (VFs) and trabecular bone score (TBS) in adult subjects with KS.

Methods

Seventy-one adult males (median age 41 years, range 18–64) with 47, XXY KS were consecutively enrolled by two Endocrinology and Andrology Units (IRCCS Humanitas Research Hospital in Milan and ASST Spedali Civili in Brescia). Dual-energy X-ray absorptiometry (DXA) was performed to assess bone mineral density (BMD) at lumbar spine, femoral neck and total hip, TBS and body composition. Prevalence of VFs was assessed by quantitative morphometry on lateral spine X-rays.

Results

VFs were detected in 14 patients (19.7%), without significant association with low BMD (p = 0.912). In univariate logistic regression analysis, VFs were significantly associated with truncal/leg fat ratio (OR 2.32 per tertile; 95% CI 1.05–5.15; p = 0.038), whereas impaired TBS (detected in 23.4% of subjects) was associated with older age at study entry (p = 0.001) and at diagnosis of disease (p = 0.015), body mass index (BMI; p = 0.001), waist circumference (p = 0.007), fat mass index (FMI; p < 0.001), FMI/lean mass index (LMI) ratio (p = 0.001). Prevalence of VFs was not significantly different between subjects with impaired TBS as compared to those with normal TBS (26.7 vs. 18.4%; p = 0.485). Skeletal end-points were not significantly associated with duration of testosterone replacement therapy and serum testosterone and 25hydroxyvitamin D values.

Conclusion

Body composition might influence bone quality and risk of VFs in subjects with KS.

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Funding

This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Author information

Author notes

  1. W. Vena and F. Carrone have equally contributed and are co-primary authors.

  2. G. Mazziotti and A. Ferlin have equally contributed and are co-senior authors.

Authors and Affiliations

  1. Department of Biomedical Sciences, Humanitas University, 20090, Pieve Emanuele, MI, Italy

    A. G. Lania & G. Mazziotti

  2. Endocrinology, Diabetology and Andrology Unit, Metabolic Bone Diseases and Osteoporosis Section, IRCCS Humanitas Research Hospital, 20089, Rozzano, MI, Italy

    W. Vena, F. Carrone, O. Akpojiyovbi, A. Pizzocaro, A. G. Lania & G. Mazziotti

  3. Department of Medicine, Unit of Endocrinology and Metabolism, ASST Spedali Civili, Brescia, Italy

    A. Delbarba & C. Cappelli

  4. Department of Experimental Sciences, University of Brescia, 25123, Brescia, Italy

    L. C. Pezzaioli, P. Facondo, C. Cappelli & A. Ferlin

  5. Department of Radiology, IRCCS Humanitas Research Hospital, 20089, Rozzano, MI, Italy

    L. Leonardi & L. Balzarini

  6. Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, ASST Spedali Civili of Brescia, Piazzale Spedali Civili, 1, 25123, Brescia, Italy

    D. Farina

  7. Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padua, 35128, Padua, Italy

    A. Ferlin

  8. Diabetes Center, Humanitas Gavazzeni Institute, via M. Gavazzeni 21, 24100, Bergamo, Italy

    W. Vena

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  1. W. Vena
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  2. F. Carrone
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  3. A. Delbarba
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Correspondence to A. Pizzocaro.

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Vena, W., Carrone, F., Delbarba, A. et al. Body composition, trabecular bone score and vertebral fractures in subjects with Klinefelter syndrome. J Endocrinol Invest 46, 297–304 (2023). https://doi.org/10.1007/s40618-022-01901-8

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