This study confirmed an increase in incidence of CD in children younger than 15 years in the Czech Republic.

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 ϭ Ϫ0.2 Ϯ 1.1, P ϭ .5) as well as SHOX-D patients (mean Z-score ϭ 0.5 Ϯ 1.5, P ϭ .3). At the proximal radius, we observed increased total bone area (Z-scores ϭ 0.9 Ϯ 1.5, P ϭ .013, and 1.5 Ϯ 1.4, P ϭ .001, for TS and SHOX-D patients, respectively) and thin cortex (Z-scores ϭ Ϫ0.7 Ϯ 1.2, P ϭ 0.013, and Ϫ2.0 Ϯ 1.2, P Ͻ .001, respectively) in both groups. Bone strength index was normal in TS as well as SHOX-D patients (Z-scores ϭ 0.3 Ϯ 1.0, P ϭ .2, and 0.1 Ϯ 1.3, P ϭ .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. (J Clin Endocrinol Metab 98: E1241-E1247, 2013)

In this study, we describe a case of papillary carcinoma in a 15-year-old girl who presented with a hyperfunctioning (hot) thyroid nodule and discuss it in the context of current management guidelines for patients with thyroid nodules. In adults, hot nodules rarely require cytologic or histologic evaluation, and hyperthyroidism is often treated with radioiodine (131I). However, in children and adolescents, the malignancy rate for nodules (both cold and hot) is higher and surgery is often necessary. Surgery may serve as a therapy, as well as a diagnostic tool, to treat hot nodules in children and adolescents.

Calcium is essential for proper muscular function and metabolism. Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism (PHP). 16-year old previously healthy boy was admitted to intensive care unit with convulsions lasting for three minutes and a transient loss of consciousness. Laboratory results revealed severe hypocalcemia (total S-Ca < 1.0 mmol/L; normal 2.2-2.6 mmol/L), hyperphosphatemia (S-P 2.8 mmol/L; normal 0.6-1.6 mmol/L). Serum creatinkinase (S-CK) activity was 32 μkat/L (normal 0.57-2.45 μkat/L). Other basic biochemical parameters including creatinine, troponin, alkaline phosphatase were within normal values. Calcemia was gradually corrected within two weeks by intravenously and orally administered calcium and by cholecalciferol. S-CK reached a maximum of 222 μkat/L on day 4 and dropped to 7.2 μkat/L on day 14. Boy had no myalgias, neither clinical signs of myopathy. Echocardiography was normal with normal myocardial contractility, without any signs of calcification. The serum level of parathyroid hormone (S-PTH) was high (12 pmol/L; normal 0.7-5.5 pmol/L), fully compatible with the diagnosis of PHP. Molecular analysis revealed pseudohypoparathyroidism type Ib (PHPIb).In conclusion, manifest tetany and even mild myopathy with very high S-CK can occur in hypocalcemic patients and usually resolves after normalization of hypocalcemia.