ESPE Abstracts (2016) 86 P-P1-130

aHealth Science Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy; bDepartment of Health Sciences, University of Florence, Careggi Hospital, Florence, Italy; cDepartment of Paediatrics, Universty of Chieti, Chieti, Italy; dDepartment of Paediatrics, University of L’Aquila, L’Aquila, Italy; eGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy; fPaediatric Unit, Empoli Hospital, Empoli, Italy

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.

Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.

Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matched control group. We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25[OH]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: Triple X patients showed significantly reduced AD-SoS (P<0.005) and BTT z-scores (P<0.0001) than the controls. These results persisted when we divided the sample into prepubertal and pubertal patients (P<0.05). Triple X patients also had significantly lower calcium ionised (P<0.005), and higher phosphate (P<0.0001) and PTH (P<0.0001) levels. However, triple X patients also showed significantly reduced 25(OH)D levels (P<0.005). AD-SoS and BTT z-scores values were significantly inversely correlated with age (P<0.005), PTH (P<0.005), and 25(OH)D (P<0.005).

Conclusion: Subjects with nonmosaic triple X syndrome exhibit a significant reduction in bone mineral status and showed an impaired bone metabolism similarly to other X polisomy such as Klinefelter syndrome, hypothesizing the presence of a primary bone deficit. This suggests the need to closely monitor these subjects.

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