Publication details
Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius
| Authors | |
|---|---|
| Year of publication | 2013 |
| Type | Article in Periodical |
| Magazine / Source | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM |
| MU Faculty or unit | |
| Citation | |
| Doi | http://dx.doi.org/10.1210/jc.2013-1113 |
| Field | Endocrinology, diabetology, metabolism, nutrition |
| Keywords | LERI-WEILL DYSCHONDROSTEOSIS; IDIOPATHIC SHORT STATURE; QUANTITATIVE COMPUTED-TOMOGRAPHY; X-RAY ABSORPTIOMETRY; MINERAL DENSITY; GENE SHOX; PROXIMAL RADIUS; GROWTH FAILURE; PREVALENCE; FRACTURES |
| Description | 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. |