hrp0092p1-66 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Diagnostical Approach to Adrenal Failure in Symptomatical Preterm Infants – is Saliva Derived Free Cortisol the Solution?

Reschke Felix , Sebastian Brenner , Angela Huebner

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

hrp0089p1-p199 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Growth Hormone Deficiency and Cryptorchidism in a Family with Xq26.3 Duplication and Position Effect on SOX3

Reschke Felix , Jahn Arne , Tzschach Andreas , Schallner Jens , Hagen Maja von der , Huebner Angela

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

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...

hrp0084p1-5 | Adrenal | ESPE2015

Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

Huebner Angela , Reschke Felix , Kurth Ingo , Kutzner Susann , Utine Eda , Hazan Filiz , Landgraf Dana , Hubner Christian A , Koehler Katrin

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

hrp0084p3-1070 | Hypo | ESPE2015

Severe Neonatal Hypoglycemia in the Newborn Despite Prenatal Diagnosed Cerebral Midline Malformations: a Review of Three Cases

Reschke Felix , Gemulla Gita , Flury Monika , Brenner Sebastian , Schuetzle Heike , Gurth Heidrun , Hahn Gabriele , Taut Heike , Glajzer Jack , Gottschalk Hans-Christian , Hubner Angela

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...

hrp0095p1-282 | Fat, Metabolism and Obesity | ESPE2022

Significant improvement in dietary behaviors and quality of life among adolescents with obesity in the COVID19 lockdown through telehealth

Struckmeyer Nora , Biester Torben , Weiner Chantal , Sadeghian Evelin , Guntermann Cathrin , Galuschka Laura , Reck Kisa , Weiskorn Jantje , Kapitzke Kerstin , Lange Karin , Danne Thomas , Reschke Felix

Background: COVID19 Lockdown resulted in an extreme change in daily lifestyle with a significant increase in weight and loss of quality of life, as well as an increase in the risk of secondary health conditions even in young people. One reason for this is a fatal change in the nutritional situation, especially among adolescents. Convincing models to counter this problem are missing so far. Multiprofessional training programs could reveal an outstanding effect ...