hrp0086p1-p444 | Fat Metabolism and Obesity P1 | ESPE2016

Neonatal Overfeeding Alters Hepatic Insulin Sensitivity During Lactation and Leads to Long-term Insulin Resistance and Fatty Liver in Mice: Key Role of Mogat1

Ramon-Krauel Marta , Pentinat Thais , Cebria Judith , Vila Maria , Perez-Wienese Ricky , Kalko Susana , Tietge Uwe , Plosch Torsten , Diaz Ruben , Jimenez-Chillaron Josep

Background: Excessive energy intake and rapid weight gain early in life are associated with obesity, type 2 diabetes, hepatic steatosis and other features of the metabolic syndrome. The monoacylglycerol acyltransferase (MGAT) is an enzyme involved in an alternative pathway for triglyceride (TAG) synthesis and storage. It has been recently proposed to have potential implications in the pathogenesis of hepatic insulin resistance (IR).Objective: To understa...

hrp0082p2-d1-365 | Fat Metabolism & Obesity | ESPE2014

Large-Born Infants Switch from an Adipose to a Lean and Insulin-Sensitive State with Low Concentrations of Circulating Myostatin and Follistatin

Sebastiani Giorgia , Cruz Miriam Perez , Silva Marta Diaz , Roig Maria Dolores Gomez , Bermejo Abel Lopez , Toda Lourdes Ibanez , De Zegher Francis

Background: Muscle is key to glucose metabolism. Myogenesis is completed in early infancy, partly under the inhibitory control of myostatin, a myokine whose actions can be influenced by follistatin. Early lowering of myostatin actions is thus a potential strategy to reduce the risk for later diabetes.Objective and hypotheses: We performed a first screening of whether such lowering is among the natural mechanisms whereby some human infants augment their l...

hrp0089p3-p401 | Growth & Syndromes P3 | ESPE2018

Is Using a Specific Growth Charts a Chance to be More Precise in Evaluation the Growth of the Children and Adolescence with Down Syndrome? Comparison of the Down’s Syndrome Growth Charts with the Growth Charts for Polish Population

Barg Ewa , Hetman Marta

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

hrp0094p1-28 | Diabetes A | ESPE2021

Glycemic control and changes in habits in patients with type 1 diabetes during the lockdown due to the COVID-19 pandemic

Valls Aina , Murillo Marta ,

Background: The SARS-CoV-2 pandemic has forced the authorities to impose a lockdown to minimize the risk of infection. This extreme and prolonged situation has caused changes in habits, dietary and glycemic control in children with type 1 diabetes (T1D). Continuous glucose monitoring (CGM) and Flash glucose monitoring (FGM) have allowed health care professionals to a remote control of the patients.Aim: The aim of the stu...

hrp0094p1-71 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Morning salivary cortisol and stress response in term and preterm infants hospitalized in the intensive care unit.

Olszewska Marta , Kwinta Przemko ,

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

hrp0092p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Mutation of the Prkar1a Gene in a Girl with Clinical Diagnosis of Pseudohypoparathyroidism

Toromanovic Alma , Francesca Marta Elli , Mantovani Giovanna

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

hrp0092p2-130 | Fat, Metabolism and Obesity | ESPE2019

Severe Obesity – Much More Than an Unhealthy Lifestyle

Matias Joana , Amorim Marta , Limbert Catarina

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

hrp0089p3-p414 | Adrenals and HPA Axis P3 | ESPE2018

Is the Third Time Really a Charm? The Story about Three Brothers Suffering from Adrenoleukodystrophy and about HSCT being a Chance to Stop the Unstoppable Disease

Hetman Marta , Kalwak Krzysztof , Barg Ewa

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

hrp0089p1-p268 | Thyroid P1 | ESPE2018

Analysis of Zinc-Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Michalak Justyna , Rydzewska Marta , Bossowski Artur

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

hrp0084p3-1074 | Hypo | ESPE2015

Congenital Hyperinsulinism in Siblings: Case Report

Brandt Agnieszka , Buraczewska Marta , Mysliwiec Malgorzata

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...