hrp0086p2-p859 | Syndromes: Mechanisms and Management P2 | ESPE2016

Hypoglycaemia in Isolated GH Deficiency beyond Infancy

Šimic-Schleicher Gunter

GH deficiency (GHD) associated hypoglycaemia in infancy is an indication for GH treatment, although it is described in GHD1in older children. At that time, GH is prescribed in GHD for short stature. Here, two children are described in whom hypoglycaemia is the main reason to treat with GH. Patient one had hypoglycaemic seizures due to GHD in infancy. GH treatment was stopped with 5.5 y for reassessment. Growth rate diminished and hypoglycaemias occurred. Treatment of GH was re...

hrp0082p3-d3-921 | Pituitary (1) | ESPE2014

Severe Features of Central Hypothyroidism und Hypoadrenalism Effectively Resolved by Treatment with Somatropin in a Boy with Panhypopituitarism

Simic-Schleicher Gunter

Background: A case of hypopituitarism usually related to hypothyroidism and hypoadrenalism. The unexpected effect of somatropin treatment is reported presented with clinical signs.Method and results: A 4-year-old adynamic boy in a wheel chair with normal height (105 cm, −0.7 SDS) but low weight (13 kg) and reduced TSH and thyroid hormones was transferred for further endocrine evaluation. Born after twin pregnancy in 35 weeks (2780 g, 49 cm, and 34 ...

hrp0089p2-p230 | GH & IGFs P2 | ESPE2018

Evaluation of Spontaneous Nocturnal GH Secretion: Noe Versus Two Consecutive Nights

Šimić-Schleicher Gunter

Introduction: GH deficiency may be evaluated by spontaneous nocturnal GH secretion. Usually one night is examined. Since sleep may be disturbed by a new environment, a night to accustom is required by some investigators, which is questioned by others. Thus, we examined spontaneous nocturnal GH secretion during 2 consecutive nights.Methods: 49 girls and 56 boys with suspicion of GH deficiency were examined between 10 pm and 8 am during 2 consecutive night...

hrp0086p2-p873 | Syndromes: Mechanisms and Management P2 | ESPE2016

A XO/XX Girl with Lack of Morphological UTS-Features, Short Stature and Precocious Puberty

Vogel Birgit , Šimic-Schleicher Gunter

Background: Ullrich-Turner-Syndrome is usually characterized by typical morphological features. Short status, delayed bone age in childhood and gonadal dysgenesis with delayed or lacking pubertal development, amenorrhoea and infertility. Other symptoms like thyroid dysfunction, heart defects, diabetes, behavioural or learning problems vary. The genotype/phenotype correlation may be poor. Especially in UTS mosaicism, spontaneous puberty may occur.Objectiv...

hrp0086p1-p232 | Diabetes P1 | ESPE2016

Extrahepatic Biliary Atresia in Combination with Toxic Cholestasis Due to Glibenclamide in a Case of Neonatal Diabetes

Kapellen Thomas , Flemming Gunter , Bartelt Heike , Wachowiak Robin , Kiess Wieland

Background: More than 20 gene loci are known to cause monogenic neonatal diabetes today. A definite mutation can be found in 65–70% of all cases. Mutations in the ATP sensitive potassium channel can frequently be treated by sulfonylurea. Glibenclamide is on of the drugs known to inhibit the bile salt export pump (BSEP). However most drug induced cholestasis cases are reported in adults.Objective and hypotheses: Glibenclamide is used frequently to tr...

hrp0084p2-437 | Gonads | ESPE2015

Implementation of a High Sensitive LC-MS/MS Method for Measurement of Oestradiol, Oestrone and Oestriol

Kulle Alexandra , Reinehr Thomas , Simic-Schleicher Gunter , Roscheswsky Jule , Welzel Maik , Holterhus Paul-Martin

Background: Specific measurement of low serum/plasma concentrations of 17β-oestradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. The role of oestrone (E1) and oestriol (E3) is not as comprehensively well understood in different pediatric endocrine disease states. We describe a method for high sensitivity analysis of estradiol (E2), oestrone (E1) and oestriol (E3) using LC-MS/MS.Objective and hypothes...

hrp0095rfc6.3 | Sex Development and Gonads | ESPE2022

Reference intervals of serum estradiol during childhood: comparing and reviewing five studies, effects of gender and age

Lamprecht Tabea , Reinehr Thomas , Kleber Michaela , Rothermel Juliane , Schulz Esther , Simic-Schleicher Gunter , Heger Sabine , Holterhus Paul-Martin , Kulle Alexandra

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

hrp0082p2-d2-522 | Pituitary (1) | ESPE2014

Treatment Options in a 14-Year-Old Boy with an Atypic Cabergolin-Resistant Macroprolactinoma with Somatostatin Receptor 2 Expression and an Increased Proliferation Rate

Huebner Angela , Reschke Felix , Hahn Gabriele , Pinzer Thomas , Meinhardt Matthias , Pyper Anke , Cannavo Salvatore , Stalla Gunter , Hofbauer Lorenz C.

Background: Macroprolactinomas in children below 10 years of age are rare. Usually prolactinomas respond well to dopamine agonists so that neurosurgical resection is rarely necessary. For non-responders to dopamine agonist therapy other extended treatment options have to be considered.Clinical case: We report a 14-year-old boy who presented at the age of 11 years with headaches for 5 years and progressive bilateral vision problems. The diagnosis of a mac...

hrp0082p2-d1-264 | Adrenals & HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0089rfc1.6 | Adrenals & HPA Axis | ESPE2018

A Laboratory Harmonization Strategy for Steroid Hormone Profiling by MoM-Transformed, Normalized Reference Ranges Independent of Age, Sex and Units

Kulle Alexandra E , Zalas Dominika , Reinehr Thomas , Niedziela Marek , Borzikowsky Christoph , Pinto Francisca , Baumann Juliane , Flader Maciej , Simic-Schleicher Gunter , Akkurt Halit Ilker , Heger Sabine , Hornig Nadine , Holterhus Paul-Martin

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...