Objective: Children and adolescents with type 1 (insulin-dependent) diabetes mellitus (T1DM) show several impairment of bone metabolism and structure, resulting in a higher risk of decreased bone mass and its related complications later in life. Alterations of the nuclear factor-kB ligand (RANK-L)/osteoprotegerin (OPG) system have been implicated in several metabolic bone diseases characterized by increased osteoclast differentiation and activation and enhanced bone resorption. Design: We aimed to assess OPG levels and to investigate the possible relation between OPG levels, bone status and glycemic control in a group of prepubertal children with T1DM without microvascular complications. Methods: Twenty-six prepubertal T1DM children (median age 9.9 years, range 4.1 -13.1 years) were studied. In all patients, serum OPG, hemoglobin (Hb)A1c, parathyroid hormone (PTH) and 25-dihydroxyvitamin D (25-D) levels were evaluated. Bone quality was determined by measuring the attenuation of ultrasound waves by bone (broadband ultrasound attenuation (BUA)) at the calcaneal site. The data were compared with those of a group of 45 age-, sex-and body-size-matched healthy children. Results: Children with T1DM showed a reduced Z-score BUA in comparison with the control group (Student's t-test, P , 0.0001). Plasma OPG levels were significantly higher in diabetic children than in controls (Student's t-test, P , 0.0001). In T1DM children, Z-score BUA values displayed a significant correlation with OPG (Student's t-test, r ¼ 2 0.62; P ¼ 0.001), and HbA1c (r ¼ 20.59; P ¼ 0.007). OPG levels were significantly correlated with HbA1c (r ¼ 0.56; P ¼ 0.008). In a multiple regression analysis including age, duration of diabetes, physical activity, calcium intake, mean HbA1c and Z-score BUA, only HbA1c significantly predicted serum OPG levels (beta 0.67; P ¼ 0.003). Conclusions: Prepubertal children with T1DM have a significant increase of OPG levels. OPG serum concentrations are correlated to calcaneal BUA and HbA1c values. OPG could be a new marker of reduced bone mass in children with T1DM.European Journal of Endocrinology 153 879-885

This study confirms the presence of alterations of thyroid function in WS and also suggests the frequent occurrence of abnormalities of thyroid morphology in these patients. Patients with WS should be monitored for thyroid function and a thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function.

Our data suggest a role for HCV infection in the development of nonautoimmune thyroid disease in untreated HCV-infected children, confirming previous studies in adults. Clinicians should be aware of thyroid dysfunction even in untreated children.

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This study confirms the presence of alterations of thyroid function in 22q11DS, and also suggests a frequent occurrence of abnormalities in thyroid morphology in these subjects. Patients with 22q11DS should be monitored for thyroid function, and thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function or congenital heart malformations. The possible relationship between developmental abnormalities in the heart and the thyroid gland should be confirmed.

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The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been studied, but investigation of bone metabolism and quality in this kind of patients are not available. In this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment.

Our study shows that only patients affected by perinatal HIV-1 infection with severe clinical manifestations present significant changes in bone quality and bone metabolism. Our data also show that impairment of skeletal status is related to reduction in serum total and free IGF-I. Children with perinatal HIV-1 infection, because of a considerable improvement in life expectancy, seem at great risk of not obtaining an optimal bone mass. A possible therapeutic approach should be considered in these children.