hrp0086fc1.1 | Adrenals | ESPE2016

DNA Methylation of HSD3B2, NUR77 and RARβ Promoter Genes is Not Involved in functional Differentiation of Human Androgen-Producing Adrenocortical Cells

Burgos Maria Cecilia Alonso , Goni Javier , Saraco Nora , Garrido Natalia Perez , Rivarola Marco A. , Belgorosky Alicia , Baquedano Maria Sonia

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

hrp0086p2-p511 | Fat Metabolism and Obesity P2 | ESPE2016

Lifestyle Survey of Doctors, Medical Residents and Medical Students in Latvia

Gailite Jurgita , Urbane Urzula Nora , Salijuma Eliza , Arnicane Ligita , Terjajeva Ludmila , Erts Renars , Dzivite-Krisane Iveta , Gardovska Dace

Background: According to World Health Organization, balanced diet and regular physical activity is the key to maintaining a healthy lifestyle.Objective and hypotheses: The aim of this study was to evaluate lifestyle habits of the healthcare personnel in Latvia.Method: Data about eating habits, physical activity, duration of sleep and other lifestyle factors were collected from medical students, medical residents and specialized doc...

hrp0082p2-d2-385 | Fat Metabolism & Obesity (1) | ESPE2014

Evaluation of the Risk of Dyslipidemia in Adolescents with Obesity

Gailite Jurgita , Urbane Urzula Nora , Strele Ieva , Erts Renars , Lauga-Tunina Una , Kirillova Inara , Gardovska Dace , Dzivite-Krisane Iveta

Introduction: Abnormal levels of lipids and lipoproteins are recognized as a prominent cardiovascular risk factor associated with increased morbidity and mortality. In many studies childhood obesity has been shown to be associated with increased levels of total cholesterol (TH), triglycerides (TG), LDL-cholesterol, and decreased levels of HDL-cholesterol.Objective: The aim of this study was to evaluate the risk of dyslipidemia (abnormal levels of all of ...

hrp0084p2-179 | Adrenals | ESPE2015

Primary Adrenal Insufficiency: About a Paediatric Series

Nardine Imen , Fedala Nora Soumeya , Derghoum Boubker , Ali Leyla Ahmed , Haddam Ali El Mahdi , Meskine Djamila , Chentli Farida

Background: Adrenal insufficiency in children is rare and potentially serious because of the risk of acute adrenal insufficiency. This complication is lethal in the absence of prompt and appropriate treatment. Aetiologies are dominated by the genetic causes.Objective and hypotheses: Report diagnostic circumstances,phenotypic forms and causes of adrenal insufficiency in children and adolescents.Method: This is a retrospective study ...

hrp0097p1-4 | Adrenals and HPA Axis | ESPE2023

Major importance of genetic background in cortisol metabolism: Salivary diurnal glucocorticoid profiles in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Eberhardt Nora , Roedig Thea , Schreiner Felix , Plamper Michaela , Bartmann Peter , Holterhus Paul-Martin , Kulle Alexandra , Gohlke Bettina

Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on glucocorticoid metabolism. We studied monozygotic twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw and catch-up growth on glucocorticoid metabolism.Methods: 46 monozygotic prepubertal twin-pai...

hrp0097p1-56 | Fat, Metabolism and Obesity | ESPE2023

Lipoma slice cultures as a new model to examine the effects of PI3K inhibitors on lipid accumulation

Maria Merz Lea , Kallendrusch Sonja , Winter Karsten , Klöting Nora , Krause Kerstin , Le Duc Diana , Kiess Wieland , Garten Antje

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

hrp0095fc4.5 | Fat, Metabolism and Obesity | ESPE2022

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

hrp0095t2 | Section | ESPE2022

Conditional PTEN knockout in mouse osteoprogenitor cells impacts bone structure and turnover

Lorenz Judith , Kirstein Anna , Nebe Michѐle , Richter Sandy , LeDuc Diana , Kiess Wieland , Klöting-Blüher Nora , Baschant Ulrike , Garten Antje

Background: Bone development and remodeling are controlled by the phosphoinositid-3-kinase (PI3K) signaling pathway. We investigated the effects of downregulation of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Ost...

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 ...

hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...