hrp0095p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Nephrolithiasis and hypoparathyroidism with normocalcemia – detecting a new mutation solves the mystery

Reichardt Susen , Mayer Brigitte , Quitter Friederike , Huebner Angela

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

hrp0097p1-586 | Thyroid | ESPE2023

Hyperthyroidism caused by severe bacterial infection

Flury Monika , Gita Gemulla , Reichardt Susen , Stamos Kristina , Taut Heike , Hahn Gabriele , Huebner Angela

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...

hrp0084p3-882 | Fat | ESPE2015

Adipocyte Fatty Acid Binding Protein is Related to Weight Status and Metabolic Risk Markers in Childhood Obesity

Kaepplinger Jakob , Petroff David , Herget Sabine , Reichardt Sandra , Grimm Andrea , Kratzsch Jurgen , Bluher Susann

Background: Adipocyte fatty acid binding protein (aFABP) regulates intracellular transport of fatty acids and seems to be involved in the pathogenesis of the Metabolic Syndrome. aFABP overproduction leads to increased cholesterol and triglyceride accumulation and to higher expression of pro-inflammatory genes. In adults aFABP seems to promote insulin resistance and atherosclerosis, and aFABP levels are significantly higher in obese compared to lean subjects. Fat mass, lipid ma...

hrp0097t20 | Section | ESPE2023

Hyperparathyroidism is associated with inferior event free survival in lymphatic childhood malignancies in a single center retrospective analysis

Grasemann Corinna , Höppner Jakob , Tippelt Stephan , Grabow Desiree , Cario Gunnar , Zimmermann Martin , Reinhardt Dirk , M Schündeln Michael

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...

hrp0097fc1.3 | Adrenals and HPA Axis | ESPE2023

Generation and Characterization of a novel Humanized CYP21A2 Knock-in Mouse Model for Congenital Adrenal Hyperplasia

Huebner Angela , Ramkumar Thirumalasetty Shamini , Schubert Tina , Naumann Ronald , Reichard Ilka , Luise Rohm Marie , Landgraf Dana , Gembardt Florian , F. Hartmann Michaela , A. Wudy Stefan , Peitzsch Mirko , Reisch Nicole , Koehler Katrin

21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP21A2 gene. 21OHD causes a wide array of clinical symptoms that result from gluco- and mineralocorticoid deficiency and adrenal androgen excess. In most cases, supra-physiological glucocorticoid doses are necessary which may cause short stature, obesity, hypertension, cardiovascular and metabolic co-morbidity with reduced quality of lif...