hrp0084p2-431 | GH & IGF | ESPE2015

Effectiveness of rhIGF1 Treatment in a Girl with Leprechaunism

Kamrath Clemens , Boettcher Claudia , Wudy Stefan

Background: Infants with severe insulin resistance syndrome show failure to thrive.Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.Method: Case report.Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. A...

hrp0092p2-3 | Adrenals and HPA Axis | ESPE2019

Contraceptives in Female Adolescents with 21-hydroxylase Deficiency (CAH) - a way to Optimize Treatment with Respect to Androgen Excess? A Pilot Study

Boettcher Claudia , Graf Stefanie , Flück Christa E

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

hrp0086p1-p23 | Adrenal P1 | ESPE2016

The Urinary Steroidome of Children with Classic 21-Hydroxylase Deficiency Treated with Hydrocortisone

Kamrath Clemens , Wettstaed Lisa , Boettcher Claudia , Hartmann Michaela , Wudy Stefan

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

hrp0082p1-d2-6 | Adrenals & HP Axis | ESPE2014

Descriptive Analyses of Turner Syndrome

Kamrath Clemens , Hartmann Michaela , Boettcher Claudia , Wudy Stefan

Background: One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid analysis using gas chromatography–mass spectrometry (GC–MS) is used as a confirmatory diagnostic tool.Objective and Hypotheses: The objective of this study was to analyze diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC&#150...

hrp0082p2-d2-335 | Diabetes (1) | ESPE2014

Insulin Therapy via Tubeless Patch Pump: Really an Alternative?

Boettcher Claudia , Schaefer Maike , Weiss Lucia , Wudy Stefan A

Background: For a few years now tubeless disposable patch pumps are available for insulin therapy.Objective and hypotheses: Alarmed by initially non explainable beginning metabolic decompensation of two children with type 1 diabetes during their hospital stay for the initial therapy adjustment with patch pumps and alarmed by patients’ reports of frequent premature pump changes and alarms, we decided to scrutinize the patch pumps under laboratory con...

hrp0082p3-d1-621 | Adrenals & HP Axis | ESPE2014

The Effect of Working in a Children’s Hospital on Urinary Catecholamine Excretion Rates in Male and Female Physicians

Boettcher Claudia , Peitzsch Mirko , Eisenhofer Graeme , Wudy Stefan A

Background: Working as a physician is accompanied by emotional and physical stress.Objective and hypotheses: Our study aimed to investigate the effect of working day and night in a children’s hospital on catecholamine excretion as a marker for acute stress and to work out possible gender differences.Methods: 22 paediatricians (ten females, 12 males) aged 27–41 years collected four 12-h urine samples: two during a 24 h-shi...

hrp0084p1-129 | Thyroid | ESPE2015

Intelligence and Behaviour in Children and Adolescents with Hashimoto’s Thyroiditis

Boettcher Claudia , Brosig Burkhard , Windhaus Henriette , Wudy Stefan A , Hahn Andreas

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

hrp0086p1-p887 | Thyroid P1 | ESPE2016

EEG Alterations are Common in Hashimoto’s Thyroiditis

Boettcher Claudia , Brosig Burkhard , Windhaus Henriette , Kamrath Clemens , Wudy Stefan A. , Hahn Andreas

Background: Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT) is a clinically and electrographically heterogeneous steroid-responsive encephalopathy associated with thyroid autoantibodies.Objective and hypotheses: To investigate, whether children and adolescents with Hashimoto’s Thyroiditis (HT) lacking acute clinical manifestation of SREAT show electroencephalogram (EEG) alterations, and to compare EEGs of HT patients with those...

hrp0094p2-116 | Diabetes and insulin | ESPE2021

Sex differences over two decades for glycaemic control, pump use and insulin dose in patients aged 10-20 years with type 1 diabetes

Boettcher Claudia , Tittel Sascha R. , Meissner Thomas , Gohlke Bettina , Stachow Rainer , Dost Axel , Lanzinger Stefanie ,

Background: Therapy in type 1 diabetes has undergone a fundamental change over the last several decades, especially by the use of technical devices. Another change that took place is the growing awareness of sex differences of all kind, e.g. as influencing factors of metabolic control. Our study aimed to evaluate sex differences over two decades with regard to changes in glycaemic control, with regard to trends in insulin pump use and insulin dose. Migration b...

hrp0089p1-p017 | Adrenals and HPA Axis P1 | ESPE2018

Biochemical, Genetic and Molecular Characterization of a Novel P399_E401Dup Mutation in P450 Oxidoreductase (POR) Altering Several Enzymatic Activities in a Patient with a 46,XX DSD Phenotype at Birth

Boettcher Claudia , Parween Shaheena , Korsch Eckhard , Hartmann Michaela F , Udhane Sameer , Kagawa Norio , Fluck Christa E , Wudy Stefan A , Pandey Amit V

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...