hrp0095fc5.5 | Adrenals and HPA Axis | ESPE2022

Influence of prenatal environment and genetic background on glucocorticoid steroid metabolism in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Schreiner Felix , Plamper Michaela , Kasner Charlotte , Gruenewald Mathias , Bartmann Bartmann Peter , Fimmers Rolf , Hartmann Michaela F. , Wudy Stefan A. , Woelfle Joachim , Gohlke Bettina

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

hrp0086rfc11.4 | Thyroid | ESPE2016

Thyroid Function in Monozygotic Twins with Intra-Twin Birth-Weight-Differences

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Schreiner Felix , Plamper Michaela , Wimmer Lioba , Gohlke Bettina

Background: Low birth weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: In a longitudinal study we observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life....

hrp0086p2-p56 | Adrenal P2 | ESPE2016

The Effect of Anti-TNF on the Metabolism of Adrenal Hormones; A Steroid Metabolomic Approach

Keinan Ariel , Hartmann Michaela F. , Butbul Yonatan , Wudy Stefan A. , Tiosano Dov

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease seen in children. The systemic features of JIA are mediated by cytokine products of an activated immune system. Recent studies showed that the median level of urine cortisol in active JIA patients is significantly lower than remission period and control groups.Objective and hypotheses: One of the najor drugs in JIA is TNFα blocker (Enbrel). The aim of the study was ...

hrp0082p1-d1-178 | Perinatal and Neonatal Endocrinology | ESPE2014

Pubertal and Adrenal Hormones in Monozygotic Twins with Intra-Twin Birth-Weight Difference

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Hamm Michaela , Stoffel-Wagner Birgit , Schreiner Felix , Gohlke Bettina

Background: Low birth weight, unfavourable intrauterine conditions, and post-natal catch-up growth are associated with a subsequent impact on growth, pubertal development, and metabolic disturbances later in life. Although the start of puberty is genetically determined it might be altered due to environmental influences.Objectives: In a longitudinal study (birth to final height) we observed growth and pubertal development of genetically identical twins b...

hrp0082p2-d1-321 | Diabetes | ESPE2014

Interaction of Pubertal Development and Metabolic Control in 1303 Adolescents with Diabetes Mellitus Type 1

Hamm Michaela , Gohlke Bettina , Wolfle Joachim , Fink Katharina , Konrad Katja , Rohrer Tilman , Hofer Sabine , Holl Reinhard

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...

hrp0084p1-147 | Miscelleaneous | ESPE2015

A New LC-MS/MS Assay for the Analysis of Sulfated Steroids in Human Serum: Quantification of Cholesterol Sulfate, Pregnenolone Sulfate, 17-Hydroxypregnenolone Sulfate and Androgen Sulfates

Sanchez-Guijo Alberto , Oji Vinzenz , Hartmann Michaela F , Traupe Heiko , Wudy Stefan A

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

hrp0084p1-150 | Miscelleaneous | ESPE2015

Severe Immunodysregulation Phenotypes Including Infancy-Onset Type 1 Diabetes Mellitus in Two Siblings with a Homozygous Mutation in the LPS-Responsive Beige-Like Anchor (LRBA) Gene

Schreiner Felix , Plamper Michaela , Duker Gesche , Schoenberger Stefan , Altmueller Janine , Hilger Alina , Reutter Heiko , Woelfle Joachim

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...

hrp0094fc9.6 | Growth Hormone and IGFs | ESPE2021

Impact of pre-transplant serum-IGF-1 on hematopoietic stem cell transplantation outcome in pediatric cancer patients

Betzmann Deborah , Doring Michaela , Blumenstock Gunnar , Erdmann Friederike , Grabow Desiree , Lang Peter , Binder Gerhard ,

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

hrp0094p1-107 | Adrenal B | ESPE2021

Cortoic Acids: Renaissance of a Forgotten Class of Steroids

Schauermann Marcel , Wachter Ulrich A. , Homoki Janos , Hartmann Michaela F. , Hua Yifan , Remer Thomas , Wudy Stefan A. ,

Initially discovered in the 1970s, the C21 steroidal acids α-cortolic acid, β-cortolic acid, α-cortolonic acid and β-cortolonic acid present the terminal oxidative products of cortisol metabolism. Undergoing renal elimination, these cortoic acids have been assumed to represent up to 25% of total urinary cortisol metabolites. However, their analysis has been difficult, only few data has been published in adults, and this class of steroids has beco...

hrp0094p1-147 | Sex Endocrinology and Gonads B | ESPE2021

A pre-analytical challenge to determine estradiol in children: A monovette systematically causing increased estradiol-concentrations in LC-MS/MS analysis

Lamprecht Tabea , Kleber Michaela , Rothermel Juliane , Holterhus Paul-Martin , Kulle Alexandra ,

Introduction: In children, estradiol (E2) concentrations are 1000-times lower in comparison to their precursors, the androgens. Depending on sex, age, and pathology, plasma concentrations vary in a broad range. The sensitive and specific determination of E2 is a particular challenge in pediatric endocrinology. Here we report a female patient aged 12 6/12 years and Tanner stage B1 with a presumed diagnosis of ovarian insufficiency. She showed a very high E2 con...