hrp0092p2-66 | Diabetes and Insulin | ESPE2019

New Mutation of the PDX-1 Gene Causes MODY Type 4 Diabetes in a 17 year old girl with Good Response to Oral Antidiabetics

Giatropoulou Sofia , Kamrath Clemens , Krull Simone , Wudy Stefan

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

hrp0092p3-4 | Adrenals and HPA Axis | ESPE2019

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

Krull Simone , Kamrath Clemens , Schulze Egbert , Giatropoulou Sofia , Wudy Stefan

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

hrp0089p1-p050 | Diabetes & Insulin P1 | ESPE2018

NBAS Gene Mutation Causes Insulin-Dependent Diabetes Mellitus in a Patient with a Multisystem Disorder Consisting Immunodeficiency and Extremely Short Stature

Giatropoulou Sofia , Konig Rainer , Wudy Stefan A. , Speckmann Carsten , Kury Patrick , Fischer-Zirnsak Bjorn , Clemens Kamrath

We report the case of a 19 years old male patient suffering from a multisystem disease involving of the skeleton, connective tissue, immune system, brain and endocrine system due to compound-heterozygote mutations in the NBAS (Neuroblastoma amplified sequence) gene (c.5741G>A [p.(Arg1914His)]; c.6565_6566insT [p.(Glu2189Valfs*7)]), detected using whole-exome-sequencing. He has an immunodeficiency including decreased CD4+T-cells, B-cells and NK-cells with expanded ...