ESPE Abstracts

Background: Sclerostin is an inhibitor of the Wnt/b-catenin bone metabolic pathway. Increased sclerostin levels and reduced bone mineral density (BMD) have been documented in adult patients with diabetes mellitus (DM), predominantly in those with T2DM. No relevant data exist on childhood T1DM.Objective and hypotheses: Our aim was to study plasma sclerostin concentration in children and adolescents with T1DM and controls and to correlate sclerostin levels...

Background: Several bone metabolic pathways seem to be disrupted in patients with type 1 diabetes mellitus (T1DM), leading to reduced bone mass.Objective and hypotheses: Our aim was to study bone metabolism markers in children and adolescents with T1DM and their correlation with bone mineral density (BMD).Method: We evaluated 40 patients (mean±S.D. age 13.04±3.53 years, mean±S.D. T1DM du...

Background: Disruption of many bone metabolic pathways and reduced bone mass are associated with diabetes mellitus. Increased fracture risk and elevated Dickkopf-1 and sclerostin levels, which are inhibitors of Wnt/β-catenin pathway, have been found in adult T2DM patients, but no relevant data exist on childhood T1DM.Objective and hypotheses: We aimed at studying plasma Dickkopf-1 and sclerostin concentration in children and adolescents with T1DM an...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

Background: Pseudopseudohypoparathyroidism (PPHP) is a rare variant of pseudohypoparathyroidism (PHP) type I, with typical anatomical abnormalities known as Albright's hereditary osteodystrophy (AHO)(short stature, brachydactyly particularly involving metacarpals and metatarsals, round face, stocky build, ectopic ossifications and a number of possible associated defects), but with normal calcium, phosphate and PTH levels and normal response to exogenous PT...

Actuality: Standard methods for determining the compensation of the disease don't always reliably reflect the level of the glycemic control of the patient, which leads to decompensation diabetes and reduce the quality and duration of life for patients. Evaluation of glycemic variability indices allows the physicians to predict the risk of developing life-threatening conditions and compensate the diabetesAim: To condu...