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J Clin Endocrinol Metab. 2013 Jul;98(7):E1241-7. doi: 10.1210/jc.2013-1113. Epub 2013 May 10.

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.

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1
Department of Pediatrics, Second Faculty ofMedicine, Charles University in Prague and University Hospital Motol, 15006 Prague 5, Czech Republic. ondrej.soucek@lfmotol.cuni.cz

Abstract

CONTEXT:

The low bone mineral density (BMD) and alterations in bone geometry observed in patients with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene.

OBJECTIVE:

Our objective was to compare BMD, bone geometry, and strength at the radius between prepubertal girls with TS and children with isolated SHOX deficiency (SHOX-D) to test the hypothesis that the TS radial bone phenotype may be caused by SHOX-D.

DESIGN AND SETTING:

This comparative cross-sectional study was performed between March 2008 and May 2011 in 5 large centers for pediatric endocrinology.

PATIENTS:

Twenty-two girls with TS (mean age 10.3 years) and 10 children with SHOX-D (mean age 10.3 years) were assessed using peripheral quantitative computed tomography of the forearm.

MAIN OUTCOMES:

BMD, bone geometry, and strength at 4% and 65% sites of the radius were evaluated.

RESULTS:

Trabecular BMD was normal in TS (mean Z-score = -0.2 ± 1.1, P = .5) as well as SHOX-D patients (mean Z-score = 0.5 ± 1.5, P = .3). At the proximal radius, we observed increased total bone area (Z-scores = 0.9 ± 1.5, P = .013, and 1.5 ± 1.4, P = .001, for TS and SHOX-D patients, respectively) and thin cortex (Z-scores = -0.7 ± 1.2, P = 0.013, and -2.0 ± 1.2, P < .001, respectively) in both groups. Bone strength index was normal in TS as well as SHOX-D patients (Z-scores = 0.3 ± 1.0, P = .2, and 0.1 ± 1.3, P = .8, respectively).

CONCLUSIONS:

The similar bone geometry changes of the radius in TS and SHOX-D patients support the hypothesis that loss of 1 copy of SHOX is responsible for the radial bone phenotype associated with TS.

PMID:
23666967
DOI:
10.1210/jc.2013-1113
[Indexed for MEDLINE]
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