hrp0089p2-p007 | Adrenals and HPA Axis P2 | ESPE2018

Miscarriages in Families with a Child with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH)

Penger Theresa , Hess Johannes , Marx Michaela , Oppelt Patricia , Dorr Helmuth-Gunther

Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.Methods: The families came from different parts of Germany and attended the annual meeting of th...

hrp0086p2-p80 | Adrenal P2 | ESPE2016

Addisonian Crisis Due to Autoimmune Adrenalitis in a 14 Year Old Boy with a History of Stem cell Transplantation (HSCT)

Penger Theresa , Albrecht Andrea , Marx Michaela , Voelkl Thomas , Stachel Daniel , Metzler Markus , Doerr Helmuth G.

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addison’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

hrp0086p2-p644 | Growth P2 | ESPE2016

Adverse Effects after Priming with Testosterone in Short Statured Boys before Growth Hormone Stimulation Test

Albrecht Andrea , Penger Theresa , Marx Michaela , Voelkl Thomas , Hirsch Karin , Doerr Helmuth G

Background: Current guidelines recommend the priming with low-dose testosterone in prepubertal boys prior to growth hormone stimulation tests. To our knowledge, only few adverse events after low-dose testosterone have been described so far.Objective and hypotheses: To assess possible side effects of testosterone priming.Patients: We studied 188 prepubertal boys aged between 10 and 15 years (mean ± S.D.: 11.4&#17...

hrp0082p1-d2-5 | Adrenals &amp; HP Axis | ESPE2014

Carbohydrate Metabolism in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydoxylase Deficiency

Dorr Helmuth G , Pichl Carolin , Marx Michaela , Herzog Nadine , Klaffenbach Daniela , Volkl Thomas

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...

hrp0082p2-d2-276 | Adrenals &amp; HP Axis (1) | ESPE2014

Waist-to-Height Ratio, Waist-to-Hip Ratio, Waist Circumference, and BMI in Children and Adolescents with Classical Congenital Adrenal Hyperplasia Due to 21-Hydoxylase Deficiency (CAH)

Dorr Helmuth G. , Marx Michaela , Herzog Nadine , Gassmann Katja , Pichl Carolin , Volkl Thomas

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

hrp0098p2-5 | Adrenals and HPA Axis | ESPE2024

Pharmacological therapy of adrenal hypercortisolism in a boy with suspected isolated micronodular adrenal hyperplasia (iMAD) due to a mutation in the PDE11A gene

Marx Michaela , F. Gaßmann Katja , Tzschoppe Anja , Nurcan Cebeci Ayse , Woelfle Joachim

Background: iMAD is a very rare cause of ACTH-independent Cushing´s syndrome in young children. Bilateral adrenalectomy is a definitive treatment, but poses young children at a high risk due to life-long adrenal insufficiency. Therefore, pharmacological treatment with metyrapone seems an alternative bridging option for a limited period of time.Case report: A 3 6/12 year old boy presented with a history of rapid wei...

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...

hrp0098p3-254 | Thyroid | ESPE2024

Chief complaints at initial presentation of children with Graves’ disease

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

Introduction: Children with Graves' disease (GD) show a set of characteristic clinical symptoms but data describing the chief complaints that led to the initial presentation are rare.Aims: To evaluate the spectrum of complaints of children with GD at initial presentation.Patients and Methods: We performed a retrospective review of the medical records of 148 children with bioch...