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Bone density assessment in a cohort of pediatric patients affected by 22q11DS

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Abstract

Objective

Hypoparathyroidism and hypocalcemia are two of the most frequent clinical characteristics of 22q11-deletion syndrome (22q11DS). The aim of this study was to evaluate bone metabolism and density in a cohort of patients affected by 22q11DS.

Methods

In 8 pediatric patients (mean age 11.5 years; range 7–16.4) affected by 22q11DS, creatinine, albumin, total and ionized calcium, phosphate, 25(OH) vitamin D, parathyroid hormone, osteocalcin, C-terminal telopeptide and interleukin 6 were assessed. Furthermore, bone mineral density (BMD) was determined by dual-energy X-ray absorptiometry procedure. 14 healthy children were considered as controls.

Results

Most of the studied subjects were overweight and lacked quality physical activity. 40 % of the subjects had reduced calcium levels in the absence of related clinical symptoms and all patients also had inadequate levels of Vitamin D. The values of L1-L4 BMD were within the reference range in all patients (z score <2). However, after comparing the age-matched indexes of bone mineralization of patients with those of controls, the former had lower bone mineralization indexes than the latter.

Conclusions

In pediatric patients with 22q11DS, an initial and slight bone loss is evident. The incidence of hypocalcemia is underestimated because hypocalcemia is asymptomatic. Several factors contribute to bone impairment in children who still have to achieve bone mass peak. Therefore, we suggest strict monitoring of bone metabolism as well as BMD measurement in patients affected by 22q11DS.

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Abbreviations

22q11DS:

22q11-Deletion syndrome

BMD:

Bone mineral density

BMI:

Body mass index

PTH:

Parathyroid hormone

CTX:

C-terminal telopeptide of type I collagen

IL-6:

Interleukin 6

BMC:

Bone mineral content

DXA:

Dual-energy X-ray absorptiometry

aBMD:

Areal BMD

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Conflict of interest

The authors declare that they have no conflict of interest. No external funding, apart from the support of the Polytechnic University of Marche, was available for this study.

Compliance with ethical standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the parents of participants included in the study.

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Authors and Affiliations

  1. Andrology Unit, Division of Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, Polytechnic University of Marche, Via Conca 71, 60126, Ancona, Italy

    L. Giovannini, G. Tirabassi & G. Balercia

  2. Paediatric Department, Salesi Children Hospital, Umberto I Hospital, Polytechnic University of Marche, Ancona, Italy

    A. Ficcadenti, F. Zallocco & R. Neri

Authors
  1. A. Ficcadenti
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  2. F. Zallocco
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  3. R. Neri
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  4. L. Giovannini
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  5. G. Tirabassi
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  6. G. Balercia
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Corresponding author

Correspondence to G. Balercia.

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Ficcadenti, A., Zallocco, F., Neri, R. et al. Bone density assessment in a cohort of pediatric patients affected by 22q11DS. J Endocrinol Invest 38, 1093–1098 (2015). https://doi.org/10.1007/s40618-015-0295-6

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  • DOI: https://doi.org/10.1007/s40618-015-0295-6

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