hrp0092p3-181 | Multisystem Endocrine Disorders | ESPE2019

Phenotype and Clinical Course in Three Individuals with Multiple Endocrine Neoplasia Type 2A due to a RET Gene Mutation

Panou Evangelia , Chrousos George

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

hrp0089p2-p173 | Fat, Metabolism and Obesity P2 | ESPE2018

Familial Hypercholesterolemia Due to Homozygous LDLRAP1 Mutation: Variability of Phenotype and Response to Medical Therapy

Panou Evangelia , Schumacher Johannes , Woelfle Joachim

Background: Familial hypercholesterolemia (FH) leads to markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and is associated with a significantly increased cardiovascular mortality already in childhood and adolescence. FH is caused by dominant mutations in the genes encoding LDL-receptor (LDLR), ApoB-100 and protein convertase subtilin/kexin9 (PCSK9), whereas rarely recessive forms due to mutations in LDL receptor adaptor protein 1 (LDLRAP1...

hrp0086p1-p259 | Diabetes P1 | ESPE2016

Phenotype and Clinical Course of Diabetes Mellitus in Individuals with Pancreatic Hypoplasia Due to a PTFA Enhancer Mutation

Panou Evangelia , Gohlke Bettina , Woelfle Joachim

Background: Recently PTF1A enhancer mutations have been described in subjects with early-onset exocrine and endocrine pancreas insufficiency.Objective: To describe the clinical course in three children with PTF1A enhancer mutations, in particular anthropometric development, insulin requirement and diabetes control.Method: Retrospective analysis of growth, weight and BMI development as well as insulin requirement and HbA1c level in ...

hrp0089fc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

TSH-Resistance and Remaining Low-T4 in Former Low-Birthweight Infants – A Study in Monozygotic Twins with Intra-Twin Birth-Weight-Differences

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Schreiner Felix , Panou Evangelia , Vollbach Heike , Gohlke Bettina

Background: Low birth-weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: We observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life.Method: Bw-difference of...