Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

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: 13.7±3.8 years) KS children and adolescents and 80 age-mat...

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Main Authors: Stefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Alberto Verrotti, Elisabetta Lapi, Sabrina Giglio, Laura Dosa, Maurizio de Martino
Format: Article
Language:English
Published: Wiley 2016-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2016/3032759
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author Stefano Stagi
Mariarosaria Di Tommaso
Cristina Manoni
Perla Scalini
Francesco Chiarelli
Alberto Verrotti
Elisabetta Lapi
Sabrina Giglio
Laura Dosa
Maurizio de Martino
author_facet Stefano Stagi
Mariarosaria Di Tommaso
Cristina Manoni
Perla Scalini
Francesco Chiarelli
Alberto Verrotti
Elisabetta Lapi
Sabrina Giglio
Laura Dosa
Maurizio de Martino
author_sort Stefano Stagi
collection DOAJ
description 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: 13.7±3.8 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 (p<0.005) and BTT (p<0.0005) z-scores compared to the controls. However, KS patients presented significantly higher PTH (p<0.0001) and significantly lower 25(OH)D (p<0.0001), osteocalcin (p<0.05), and bone alkaline phosphatase levels (p<0.005). 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.
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spelling doaj-art-1e74b98f648141ee81e19d043eaf16e92025-02-03T01:10:06ZengWileyInternational Journal of Endocrinology1687-83371687-83452016-01-01201610.1155/2016/30327593032759Bone Mineral Status in Children and Adolescents with Klinefelter SyndromeStefano Stagi0Mariarosaria Di Tommaso1Cristina Manoni2Perla Scalini3Francesco Chiarelli4Alberto Verrotti5Elisabetta Lapi6Sabrina Giglio7Laura Dosa8Maurizio de Martino9Department of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyDepartment of Health Sciences, University of Florence, Careggi Hospital, 50134 Florence, ItalyDepartment of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyDepartment of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyDepartment of Paediatrics, University of Chieti, 66100 Chieti, ItalyDepartment of Paediatrics, University of L’Aquila, 67100 L’Aquila, ItalyGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyDepartment of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, 50139 Florence, ItalyObjective. 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: 13.7±3.8 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 (p<0.005) and BTT (p<0.0005) z-scores compared to the controls. However, KS patients presented significantly higher PTH (p<0.0001) and significantly lower 25(OH)D (p<0.0001), osteocalcin (p<0.05), and bone alkaline phosphatase levels (p<0.005). 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.http://dx.doi.org/10.1155/2016/3032759
spellingShingle Stefano Stagi
Mariarosaria Di Tommaso
Cristina Manoni
Perla Scalini
Francesco Chiarelli
Alberto Verrotti
Elisabetta Lapi
Sabrina Giglio
Laura Dosa
Maurizio de Martino
Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
International Journal of Endocrinology
title Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
title_full Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
title_fullStr Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
title_full_unstemmed Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
title_short Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
title_sort bone mineral status in children and adolescents with klinefelter syndrome
url http://dx.doi.org/10.1155/2016/3032759
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