hrp0092p2-20 | Adrenals and HPA Axis | ESPE2019

Polydipsia, Hyponatremia and a Biochemical Profile of Aldosterone Synthase Deficiency

Reinauer Christina , Förtsch Katharina , Meissner Thomas , Mayatepek Ertan , Holterhus Paul Martin , Kummer Sebastian

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

hrp0089p3-p404 | Adrenals and HPA Axis P3 | ESPE2018

Clinical and Biochemical Phenotype of Aldosterone Synthase Deficiency

Fortsch Katharina , Doing Carsten , Wudy Stefan A , Hartmann Michaela F , Martin Holterhus Paul , Mayatepek Ertan , Reinauer Christina , Meissner Thomas , Kummer Sebastian

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

hrp0097p1-198 | Thyroid | ESPE2023

Graves’ disease in children with Down syndrome

Nurcan Cebeci Ayse , Schempp Vera , Reinauer Christina , Gohlke Bettina , Marx Michaela , Dörr Helmuth-Günther , Woelfle Joachim

Introduction: Thyroid abnormalities such as subclinical or overt hypothyroidism are common in children with Down syndrome (DS) with ranges from 4% to 19.5%, whereas Graves´ disease (GD) is extremely rare (ranges 0.6%-0.9 %).Aims: To evaluate clinical features, course, and treatment of GD in children with DS.Patients and Methods: Among 161 children with GD, diagnosed between 1...

hrp0089p1-p081 | Diabetes & Insulin P1 | ESPE2018

ZFP57-associated Transient Neonatal Diabetes is Responsive to Oral Sulfonylurea Treatment

Reinauer Christina , Jonasson Annemarie , Harmsen Stefani , Debinski Pierre , Soditt Volker , van Afferden Sonia , Mayatepek Ertan , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

hrp0097p1-388 | Thyroid | ESPE2023

Neutropenia in paediatric Graves disease patients occurs more often under Carbimazole than Methimazole

Schempp Vera , Nurcan Cebeci Ayse , Reinauer Christina , Woelfle Joachim , Dörr Helmuth-Günther , Roosen Marie-Thérèse , Gohlke Jonas , Gohlke Bettina

Introduction: Neutropenia is known as a rare adverse event of anti-thyroid drug treatment (ATD) but has also been reported as pre-treatment neutropenia in Graves’ disease (GD). Studies on paediatric patients are rare. To the best of our knowledge, there are no data comparing the effects of methimazole (MMI) and carbimazole (CBZ) treatment in children on the absolute neutrophil count (ANC).Methods: We analyzed retro...

hrp0097p1-230 | Diabetes and Insulin | ESPE2023

Motivational interviewing from the pediatricians' perspective: assessments after a 2-day training for physicians caring for adolescents with chronic medical conditions (CMCs)

Kammering Hannah , Antony Cruz Jennifer , Lena Platzbecker Anna , Reinauer Christina , Viermann Rabea , Förtsch Katharina , Krassuki Lisa , Meissner Thomas , Domhardt Matthias , Baumeister Harald , Staab Doris , Minden Kirsten , Sandra Mueller-Stierlin Annabel , W. Holl Reinhard , Warschburger Petra

Background: Counselling adolescents with chronic diseases can be challenging when it comes to appropriate interview techniques and the doctor's attitude towards the patient. Successful communication can be a key element of treatment. Motivational interviewing (MI) is widely applicable in the management of behavioural problems and illnesses, as it increases patients' motivation for lifestyle changes. This plays a particularly important role in the tre...