Bone mineral status and metabolism in patients with Williams-Beuren syndrome

• Published in: Hormones (Athens, Greece) Vol. 15; no. 3; pp. 404 - 412
• Main Authors: Stagi, Stefano, Manoni, Cristina, Scalini, Perla, Chiarelli, Francesco, Verrotti, Alberto, Cecchi, Cecilia, Lapi, Elisabetta, Giglio, Sabrina, Romano, Silvia, de Martino, Maurizio
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.07.2016
• Subjects: Adolescent; Adult; Age Factors; Biomarkers - blood; Biomarkers - urine; Bone and Bones - diagnostic imaging; Bone and Bones - metabolism; Bone Density; Bone Remodeling; Case-Control Studies; Child; Cross-Sectional Studies; Endocrinology; Female; Humans; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Osteoporosis - blood; Osteoporosis - diagnostic imaging; Osteoporosis - etiology; Osteoporosis - urine; Predictive Value of Tests; Prognosis; Research Paper; Risk Factors; Williams Syndrome - blood; Williams Syndrome - complications; Williams Syndrome - diagnosis; Williams Syndrome - urine; Young Adult; Osteoporosis; Bone quality; Williams-Beuren syndrome; QUS; Bone Metabolism; Williams syndrome
• ISSN: 1109-3099; 2520-8721; 2520-8721
• DOI: 10.14310/horm.2002.1683

OBJECTIVE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). PATIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. MEASUREMENTS: We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores. RESULTS: WBS patients showed a significantly reduced AD-SoS z-score (p <0.001) and BTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher PTH levels (p <0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls. CONCLUSIONS: WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients.