ESPE Abstracts

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

Introduction: Hepatic steatosis(HS) is a frequent finding in obese children. Insulin resistance, hypertriglyceridemia and abdominal circumference (AC) are known risk factors, similar to Metabolic Syndrome (MS), but the precise pathophysyology remains unexplained.Objectives: To analyze the prevalence of HS as identified by ultrasound as well as acanthosis Nigricans (AN) in two groups of obese patients; with or without presence of MS; by studying anthropom...

Neonatal diabetes (ND), classified as either permanent (PND) or transient (TND), occurs in 1/200,000 live births. In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases. The most frequent cause is mutation of the 6q24 gene accompanied by mutations in heterozygosis of ABCC8 gene. 80% of mutations in this gene are in novo, due to autosomal recessive inheritance. Such cases respond to treatment with sulfonylurea...

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...

Type 1 diabetes (T1DM) in childhood is a highly prevalent disease, with incidence oscillating around 17.6/100000. However, incidence is higher in some communities (25.5/100,000), as it is in the case that concerns us. Diabetic ketoacidosis (DKA) is a complication usually recorded in 25–40% of cases but has been as high as 55% in studies of children under 5 years old. (T1DM) is an associated autoimmune disease to other precursor autoimmune pathologies.<p class="abstext...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...