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International Journal of Endocrinology
Volume 2016, Article ID 3032759, 9 pages
Clinical Study

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

1Department of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, 50139 Florence, Italy
2Department of Health Sciences, University of Florence, Careggi Hospital, 50134 Florence, Italy
3Department of Paediatrics, University of Chieti, 66100 Chieti, Italy
4Department of Paediatrics, University of L’Aquila, 67100 L’Aquila, Italy
5Genetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, 50139 Florence, Italy

Received 17 January 2016; Revised 4 May 2016; Accepted 9 May 2016

Academic Editor: Małgorzata Kotula-Balak

Copyright © 2016 Stefano Stagi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism during childhood and adolescence are very rare. Patients. This cross-sectional study involved 40 (mean age: years) KS children and adolescents and 80 age-matched healthy subjects. For both patient and control groups, we evaluated serum levels of ionised and total calcium, phosphate, total testosterone, luteinising hormone, follicle stimulating hormone, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase, and urinary deoxypyridinoline concentrations. We also calculated the z-scores of the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT). Results. KS children and adolescents showed significantly reduced AD-SoS () and BTT () z-scores compared to the controls. However, KS patients presented significantly higher PTH () and significantly lower 25(OH)D (), osteocalcin (), and bone alkaline phosphatase levels (). Interestingly, these metabolic bone disorders were already present in the prepubertal subjects. Conclusions. KS children and adolescents exhibited impaired bone mineral status and metabolism with higher PTH levels and a significant reduction of 25-OH-D and bone formation markers. Interestingly, this impairment was already evident in prepubertal KS patients. Follow-ups should be scheduled with KS patients to investigate and ameliorate bone mineral status and metabolism until the prepubertal ages.