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 ...

hrp0086p1-p637 | Growth P1 | ESPE2016

Diagnosing GH Deficiency in Children by Arginine Hydrochloride Infusion Test: Relationship between Auxiological Characteristics, Arginine Plasma Profile and Arginine-Stimulated GH Release

Woelfle Joachim , Schreiner Felix , Gohlke Bettina

Background: Arginine HCl infusion is commonly used in the diagnostic workup of GH deficiency. There is a paucity of data whether obesity and/or short stature modulate arginine plasma concentration and associated arginine-stimulated GH secretion following a weight-based arginine infusion protocol.Objective and hypotheses: To study whether auxiological parameters modulate the arginine plasma concentration profile and associated GH secretion in children und...

hrp0095fc9.1 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

COVID-19 and increased prevalence of female precocious puberty in Germany

Sonja Baehr , Dirk Schnabel , Joachim Woelfle , Felix Schreiner , Bettina Gohlke

Background: Several studies observed a positive secular trend for the occurrence of earlier puberty. Genetic background, weight gain, and environmental factors are assumed as contributors. In March 2020, WHO declared a worldwide pandemic of COVID-19. To reduce transmission, Germany and many other countries imposed regulations of social distancing and lockdowns leading to significant changes in daily life for children followed by an increase in obesity but also...

hrp0092p1-234 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Identification of Syndromal Macrosomia: Macrocephaly, but Neither Height Nor Weight Data are Useful in the Detection of Pediatric PTEN Hamartoma Tumor Syndrome (PHTS)

Plamper Michaela , Gohlke Bettina , Schreiner Felix , Wölfle Joachim

Background: PTEN Hamartoma Tumor Syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is a diagnostic feature, but there is a paucity of data on prevalence, degree und development during growth. Charts for length, weight and head circumference for this rare disorder do no...

hrp0089p2-p115 | Diabetes & Insulin P2 | ESPE2018

Favorable Outcome Despite Prolonged Hypoglycemic Episodes Following a Massive Insulin Overdose: A Case Series

Vollbach Heike , Gohlke Bettina , Schulte Sandra , Woelfle Joachim

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

hrp0086p1-p199 | Diabetes P1 | ESPE2016

Anthropometry and Glucose Homeostasis in a Patient with Donohue Syndrome (Homozygous Insulin Receptor Mutation): Effect of Continuous s.c. rIGF-I Therapy

Plamper Michaela , Schreiner Felix , Gohlke Bettina , Wolfle Joachim

Background: Donohue syndrome (DS) is caused by autosomal-recessive loss of function mutations of the insulin receptor gene. DS is associated with diabetes mellitus unresponsive to conventional insulin therapy due to severe insulin resistance. Patients exhibit IUGR and postnatal failure to thrive. They develop a characteristic facies, hypertrichosis and acanthosis nigricans. Most patients die within the first two years of life because of respiratory infections. To date, no caus...

hrp0086p1-p564 | Perinatal Endocrinology P1 | ESPE2016

Long-Term Effects of Differences in Fetal Environment: Endocrine Influences on Cognitive Function and Personality in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Schulte Sandra , Bartmann Peter , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

hrp0082p3-d2-857 | Growth (3) | ESPE2014

Differences in Personality of Monozygotic Twins can be Predicted by Difference in Birth Weight in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Bartmann Peter , Schulte Sandra , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...

hrp0084p2-499 | Perinatal | ESPE2015

Postnatal Catch-Down Growth is not Associated with Disturbances in Metabolic Parameters in Large-for-Gestational-Age Infants at the Age of 8 Years

Peters Julia , Woelfle Joachim , Joergens Susanne , Bartmann Peter , Gohlke Bettina

Background: Children born small-for-gestational-age (SGA) especially when they experience rapid catch-up growth have an increased risk for obesity and metabolic disturbances later in life.Aims and objectives: Little is known about the effect of catch-down (c-d) growth and its effect on metabolic parameters in children born large-for-gestational-age (LGA).Patients and methods: 101 pre-pubertal children with a birth-weight and/or len...

hrp0097t17 | Section | ESPE2023

Deterioration in polysomnographic evaluation after COVID-19 infection in patients with Prader-Willi-Syndrome

Braun Sina , Schulte Sandra , Laemmer Constanze , Gohlke Bettina

Background: Patients with Prader-Willi-Syndrome (PWS) seem to be a risk-group for COVID-19 infection, due to their syndrome associated clinical features of hyperphagia and obesity, risk for central hypoventilation and obstructive sleep apnoea. Yet, little is known about the severity of infections and the long-term consequences in these patients. Therefore, we studied auxologic parameters and sleep laboratory examinations in PWS patients before and after COVID-...