ESPE Abstracts

Background: The increased prevalence of anti-thyroid peroxidase antibodies (anti-TPO) and autoimmune thyroiditis in children with type 1 diabetes (T1D) has been previously well described. However, the necessity for screening for anti-TPO in children who have not been diagnosed with T1D yet, but have a HLA-conferred susceptibility to T1D, has not been reported. A 3% prevalence of anti-TPO in healthy children has been shown in studies using a cut-off value of >100 kU/L for c...

Introduction: The prevalence of thyroid peroxidase antibody (anti-TPO) positivity is estimated to be around 3-4% in healthy children and is remarkably higher in children with type 1 diabetes (T1D). However, anti-TPO positivity in children with HLA-conferred susceptibility to T1D who are not yet diagnosed with T1D, is not well studied. The aim of this study was to describe the prevalence of positive anti-TPO and its effect of thyroid function in children wi...

We present the case of a 11-years-old girl who came to our attention for a first critical episode lasting a few minutes, with spontaneous resolution, described as a generalized clonic tonic crisis, which occurred in full well-being. An electroencephalogram (EEG) was performed which showed focal epileptiform anomalies in the right temporal center that spread evoked by hyperpnea and eye closure and an EEG after sleep deprivation that showed an accentuation of the anomalies in ph...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Background: Schaaf-Yang syndrome is caused by heterozygous mutation in the MAGEL2 gene (605283) on chromosome 15q11. Schaaf-Yang Syndrome is an autosomal dominant multisystem disorder characterized by psychomotor and mental retardation, hypotension, and behavioral abnormalities. Additional signs include joint contractures, feeding difficulties and various dysmorphic features. The severity of the disorder varies greatly: some patients may live with moderate dis...

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...