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Int J Endocrinol. 2016;2016:3032759. doi: 10.1155/2016/3032759. Epub 2016 Jun 16.

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.

Author information

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

Abstract

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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