hrp0089p3-p385 | Thyroid P3 | ESPE2018

Rare Case Report of Thyroiditis De Quervain in a Six Years Old Girl

Liapi Maria , Jorch Norbert , Hamelmann Eckard

Introduction: Subacute thyroiditis or De QuervainÂ’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

hrp0095p1-236 | Diabetes and Insulin | ESPE2022

A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman

Avrami Georgia , Drasdo Mojgan , Neuber Steffen , Jorch Norbert , Hamelmann Eckard

Background: Hyperglycaemia combined with hypertriglyceridaemia and non-alcoholic fatty liver, not directly related to Type 1 diabetes mellitus (T1DM,) is a rather uncommon metabolic disorder in children, which often evades early and accurate diagnosis. Even though considerable progress has been made in identifying some of the genes involved, the molecular basis of conditions presenting with hypertriglyceridaemia, deranged liver function and insulin resistance ...