hrp0089p2-p035 | Adrenals and HPA Axis P2 | ESPE2018

Pseudopubertas Praecox in a 4 Year Old Boy with Bilateral Atypical Adrenocortical Adenomas

Brichta Corinna , Wurm Michael , Hodde Franka , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

hrp0082p3-d1-817 | Growth | ESPE2014

Increased Required Dose of GH in Children with Inborn Panhypopituitarism

Wurm Michael , van der Werf-Grohmann Natascha , Krause Alexandra , Roemer-Pergher Cordula , Schwab Karl Otfried

Introduction: Standard dose for GH deficient children is 0.025 mg/kg per day given subcutaneously once daily. Inborn panhypopituitarism is a special subset of GH deficiency. Its management is difficult because several hormones need to be replaced. We present three patients with perinatal onset panhypopituitarism.Case reports: Case 1 is a 7-year-old boy who had hypoglycaemic seizure with reanimation due to circulatory arrest shortly after birth. Panhypopi...

hrp0084p3-696 | Diabetes | ESPE2015

Influence of hypoglycemic episodes on attention and behavioural abnormalities in diabetic children

Wurm Michael , Niebuhr Vera , Hallermann Kristiane , Krause Alexandra , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

hrp0092p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pediatric Patients with Heterozygous ALPL Mutation show a Broad Clinical Phenotype

Melanie Brichta Corinna , Wurm Michael , Krebs Andreas , Lausch Ekkehart , Van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

hrp0084p3-941 | GH & IGF | ESPE2015

Decrease of Small Dense LDL and Lipoprotein-Associated Phospholipase A2 due to Human GH Treatment in Short Children with GH Deficiency and Small for Gestational Age Status

Krebs Andreas , Kratzin Thomas , Doerfer Jurgen , Winkler Karl , Wurm Michael , van der Werf-Grohmann Natascha , Krause Alexandra , Schwab Karl Otfried

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...

hrp0084p3-1090 | Perinatal | ESPE2015

Crystal Formation in the Meibomian Glands as Diagnostic Proof of Pseudohypoaldosteronism Type I

van der Werf-Grohmann Natascha , Lausch Ekkehart , Wurm Michael , Kannan Cecil , Fuchs Hans , Spiekerkotter Ute , Schwab Karl Otfried

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

hrp0089rfc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Close Correlation between Salivary and Blood Steroids in Normal Boys: Salivary Testosterone Best Characterizes Male Puberty

Schwab Karl Otfried , Dickhuth Karoline , Mumm Rebekka , Stier Bernhard , Doerfer Juergen , Grueninger Dirk , Brichta Corinna Melanie , van der Werf-Grohmann Natascha , Wurm Michael , Krebs Andreas

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

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 ...

hrp0084p3-1060 | Hypo | ESPE2015

Transient Congenital Hyperinsulinism and Renal Fanconi Syndrome

Brichta Corinna Melanie , Pohl Martin , Lausch Ekkehart , Kohlhase Jurgen , van der Werf-Grohmann Natascha , Wurm Michael , Krause Alexandra , Schwab Karl Otfried

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...

hrp0089rfc3.1 | Diabetes and Insulin 1 | ESPE2018

Diagnostics of Early Atherosclerosis Risk in Kids (DEAR-Kids): Retinal Vessel Analysis in Pediatric Type 1 Diabetes – Retinal Arteriolar Narrowing Caused By High HbA1c

Wurm Michael , Leonie Kuhnemund , Maier Lisa , Mi Xia , Lichte Kai , Hallermann Kristiane , Krause Alexandra , Brichta Corinna , van der Werf-Grohmann Natascha , Krebs Andreas , Hanssen Henner , Deibert Peter , Schwab Karl Otfried

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...