Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11)

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Abstract
Introduction: Although hypoparathyroidism with hypocalcaemia is one of the most frequent clinical features of monoallelic microdeletion of chromosome 22q11 (22q11DS), bone mass and metabolism have not yet been assessed in these patients.Design: This study aimed to evaluate bone mass and metabolism in a cohort of patients, both children and adults, with 22q11DS.Methods: In twenty-eight patients with 22q11DS (median age 12.5, range 6.1–42.8 years), serum levels of ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin and bone-specific alkaline phosphatase (BSAP), and urinary deoxypyridinoline concentrations were evaluated. In these patients, bone mineral density (BMD) was evaluated by dual-energy X-ray absorptiometry (DXA) examination, and volumetric BMD (bone mineral apparent density (BMAD)) was calculated.The data obtained from paediatric and adult patients were compared with two age-, sex- and body size-matched healthy subject control groups.Results: Patients with 22q11DS showed a reduced BMAD Z-score compared with controls (PPPPPPPPPPPPPZ-score did not show substantial differences between these two groups.Conclusions: Subjects with 22q11DS have a significant reduction in bone mass that appears to be more severe in adults who have already attained peak bone mass than in children who are still growing. Therefore, we suggest a close monitoring of bone mass and metabolism in 22q11DS patients.

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