ESPE Abstracts

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...

Introduction: Central hypothyroidism is due to a deficiency of TRH/TSH.Patient and Methods, Results: A 9 year old boy (07 Aug. 20) was referred for proportionate short stature (-2.7 SD). He complained of fatigue and had mild peripheral edema. His baseline T4 was 2.9 ug/dL(ref. 4.50-12.50 ug/dL) and TSH 0.04 uIU/ml (0.400-4.00). The TRH test showed low TSH <0.004 Ulu/ML (ref. 0.400-4.00) and low T4 2.70 (ref. 4.50-12....

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births.Objective and hypotheses: Small for gestation age (SGA) may influence prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate prevalence, clinical features and outcome of SGA born children with associated CAKUT....

Background: Nephrogenic diabetes insipidus (NDI) is caused by inability of renal collecting duct cells to respond to arginine vassopresin (AVP)/antidiurethic hormone (ADH).Objective and hypotheses: The majority of patients (about 90%) have type 1, X-linked recessive form, of NDI caused by mutation in gene encoding the vassopresin V2 receptor. Type 2, autosomal NDI, have the rest 10% of patients. This type is caused by the aquaporin-2 water channel (AQP2)...

Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia, visceromegaly, malformations, and hypo-glycaemia in 30–50%) and predisposition for tumors, during the second part of pregnancy and first few years of life.Objective and hypotheses: Molecular characterisation of a patient with BWS was perfor-med to ensure adequate clinical management. This analysis revealed the most common ...

Glucocorticoids are widely used to treat autoimmune and inflammatory diseases. The side-effects of glucocorticoids are well known, but not routinely monitored in the pediatric population. Recommendations regarding the timing of blood glucose screening are lacking and understanding about the correlation between different glucocorticoid treatment regimens and glucose variability is insufficient. Our objective was to test the usability of continuous glucose monitooring (CGM) to d...

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...

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: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth, and can lead to significant distress and gender dysphoria (GD). In various studies it has been associated with a predisposition to developing pathological eating behaviours, which in turn negatively influence the individual’s metabolic health. In our study we examine selected markers of metabolic condition and assess sur...