hrp0092p2-66 | Diabetes and Insulin | ESPE2019

New Mutation of the PDX-1 Gene Causes MODY Type 4 Diabetes in a 17 year old girl with Good Response to Oral Antidiabetics

Giatropoulou Sofia , Kamrath Clemens , Krull Simone , Wudy Stefan

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

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-p011 | Adrenals and HPA Axis P1 | ESPE2018

Characterizing the Steroidome in Ammniotic Fluid of Mid-gestation by LC-MS/MS

Wang Rong , Tiosano Dov , Hartmann Michaela F , Wudy Stefan A

The amniotic fluid (AF) milieu is complex and essential to fetal well-being. Here we present a new LC-MS/MS method for the targeted metabolomics analysis of 20 unconjugated and conjugated steroids in 65 AF samples during mid-gestation. Sample preparation included protein precipitation, centrifugation, solid phase extraction and derivatization. We measured progesterone (Prog), 17α-hydroxyprogesterone (17OHProg), testosterone (T), estrone (E1), estradiol (E2), estriol (E3),...

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...

hrp0094p2-107 | Diabetes and insulin | ESPE2021

A paradoxical conundrum: diabetic ketoacidosis resulting in treatment-resistant hypokalemic alkalosis

Rakicioglu Hande , Kamrath Clemens , Karatsiolis Platonas , Genthner Nora , Wudy Stefan ,

From time to time pediatric endocrinologists may be confronted with paradoxical constellations. Here, we report on a 13-year-old boy with type-1 diabetes. He had polyuria and polydipsia for the previous 2 weeks. Three days before presentation, he got increasingly exhausted and developed recurrent vomiting. At presentation his weight was 41,4 kg (P 25-50) and his height was 154 cm (P 25-50). Initial labs were HbA1c 10.2%, glucose 530 mg/dl, pH 7.15, base excess - 21.1 mmol/l, b...

hrp0094p2-326 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Differential diagnosis of pre- and postnatal short stature revisited: 3-M syndrome

Karatsiolis Platonas , Kamrath Clemens , Rakicioglu Hande , Wudy Stefan ,

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...