hrp0086p1-p215 | Diabetes P1 | ESPE2016

The Influence of ß-Cell Autoimmunity on Cystic Fibrosis Related Diabetes Mellitus – A DPV Registry Analysis

Wurm Michael , Prinz Nicole , Konrad Katja , Laubner Katharina , Kieninger Dorothee , Kapellen Thomas , Wiemann Dagobert , Schebek Martin , Lilienthal Eggert , Smaczny Christina , Witsch Michael , Bauer Maria , Holl Reinhard W.

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...

hrp0095p1-456 | Diabetes and Insulin | ESPE2022

Outmoded by Mody? A Case Report of HNF1A-Mody in Paediatric Stroke

Siese Thomas , Hickingbotham Hannah , Eggers Anne , Alins-Sahun Yolanda , Bowen Philippa , Hamilton-Shield Julian

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

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-p008 | Adrenals and HPA Axis P1 | ESPE2018

Impact of Puberty on Final Height in Children and Adolescents with Congenital Adrenal Hyperplasia (CAH)

Rohayem Julia , Schreiner Felix , Riedl Stefan , Voss Egbert , Wolf Johannes , Grasemann Corinna , Fink Katharina , Mohnicke Klaus

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

hrp0082p2-d1-269 | Adrenals & HP Axis | ESPE2014

Congenital Adrenal Hyperplasia Caused by 11β-hydroxylase-Deficiency as a Rare Differential Diagnosis of Precocious Pseudo-Puberty and Hypertension

Yakovenko Vira , Simon Anke , Schulze Egbert , Grulich-Henn Jurgen , Bettendorf Markus

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...

hrp0089p2-p326 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Adenomas in Children and Adolescents: A Retrospective Single-Centre Analysis

Breil Thomas , Lorz Catherine , Choukair Daniela , Mittnacht Janna , Inta Ioana , Klose Daniela , Jesser Jessica , Schulze Egbert , Bettendorf Markus

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...