hrp0089p2-p378 | Thyroid P2 | ESPE2018

The Prevalence of Clinically Significant Anti-TPO Positivity in Children with HLA-Conferred Susceptibility to Type 1 Diabetes

Saare Liisa , Peet Aleksandr , Tillmann Vallo

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...

hrp0092p1-289 | Thyroid (1) | ESPE2019

Thyroid Peroxidase Antibodies in Children with HLA-Conferred Susceptibility to Type 1 Diabetes

Saare Liisa , Peet Aleksandr , Tillmann Vallo

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...

hrp0095p1-192 | Thyroid | ESPE2022

Hashimoto’s Encephalopathy in children: a case report

Cozzolino Mariarosaria , Mainetti Martina , Graziani Vanna , Ricciardelli Paolo , Marchetti Federico

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...

hrp0089p3-p088 | Diabetes & Insulin P3 | ESPE2018

The Triad of Obesity, Acanthosis Nigricans and Diabetes Mellitus in a Newly Diagnosed Adolescent; Is This Type 1 Or Type 2 Diabetes Mellitus?

Joel Dipesalema , Ramaphane Tshireletso , Matsheng-Samuel Motlalekgomo , Nchingane Seeletso

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....

hrp0092p2-200 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine Features of Schaaf-Yang Syndrome. Case Report

Tolstikova Olena , Aharkov Serhii

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...

hrp0089p2-p292 | Multisystem Endocrine Disorders P2 | ESPE2018

Aldosterone, Renin, Sodium and Potassium Excretion in Normotensive Prepubertal Children

Martinez-Aguyo Alejandro , Poggi Helena , Campino Carmen , Peredo Soledad , Baudrand Rene , Carvajal Cristian , D'Apremont Ivonne , Moore Rosario , Solari Sandra , Allende Fidel , Fardella Carlos

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 ...

hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

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...