hrp0089p3-p385 | Thyroid P3 | ESPE2018

Rare Case Report of Thyroiditis De Quervain in a Six Years Old Girl

Liapi Maria , Jorch Norbert , Hamelmann Eckard

Introduction: Subacute thyroiditis or De QuervainÂ’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

hrp0095p1-236 | Diabetes and Insulin | ESPE2022

A novel homozygous mutation in the Glycerol-3-Phosphate Dehydrogenase 1 gene combined with a heterozygous mutation in the Glucokinase Regulator gene associated with hyperglycaemia, hypertriglyceridaemia and non-alcoholic fatty liver in a 17 year old woman

Avrami Georgia , Drasdo Mojgan , Neuber Steffen , Jorch Norbert , Hamelmann Eckard

Background: Hyperglycaemia combined with hypertriglyceridaemia and non-alcoholic fatty liver, not directly related to Type 1 diabetes mellitus (T1DM,) is a rather uncommon metabolic disorder in children, which often evades early and accurate diagnosis. Even though considerable progress has been made in identifying some of the genes involved, the molecular basis of conditions presenting with hypertriglyceridaemia, deranged liver function and insulin resistance ...

hrp0094p2-464 | Thyroid | ESPE2021

Atypical presentation of acute suppurative thyroiditis in a 6 year old child.

Liapi Maria , Möllers Martin , Feldkamp Joachim , Jorch Norbert

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...

hrp0095fc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effects of burosumab treatment on mineral homeostasis in children and adolescents with X-linked hypophosphatemia: lessons from the German XLH Registry

Ewert Annika , Rehberg Mirko , Hiort Olaf , Binder Gerhard , Schröder Carmen , Jorch Norbert , Richter-Unruh Annette , Freiberg Clemens , Peter Schlingmann Karl , Haffner Dieter , Schnabel Dirk

Introduction: Burosumab was approved for treatment of pediatric patients with X-linked hypophosphatemia (XLH). However, data on its efficacy in adolescents (age > 12 years) and in real-world settings are lacking.Material and methods: Here we assess the effects of 12 months burosumab treatment on mineral homeostasis in 77 pediatric XLH patients (50 children, 27 adolescents) enrolled in the German XLH Registry. Age and ...

hrp0089p2-p002 | Adrenals and HPA Axis P2 | ESPE2018

GnRH-analogue Treatment in Children with Congenital Adrenal Hyperplasia (CAH): Data from a Multicenter CAH Registry

Schreiner Felix , Rohayem Julia , Fricke-Otto Susanne , Golembowski Sven , Jorch Norbert , Schwab Karl Otfried , Warncke Katharina , Zanier Ulrike , on behalf of the German CAH Registry (DGKED-QS)

Background: Final height in patients with congenital adrenal hyperplasia (CAH) is generally assumed to be lower than the population norm. Besides CAH subtype and age at diagnosis, timing of pubertal development is considered to have a significant impact on final height. In most CAH patients, puberty starts within normal ranges, although at a somewhat earlier mean age compared to reference populations. CAH-complicating gonadotropin-dependent precocious puberty has been reported...