hrp0095p2-205 | Multisystem Endocrine Disorders | ESPE2022

A novel mutation of AIRE gene in a patient with Autoimmune Polyglandular Syndrome type I (APS1), a case report

Tautiva-Rojas Maria-Camila , Pacheco Mariana , Santamaria-Quesada Carlos , Bogarin-Solano Roberto

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

hrp0089p2-p145 | Fat, Metabolism and Obesity P2 | ESPE2018

The Effect of Exclusive Breastfeeding and Formula Feeding on Body Composition During the First Two Years of Life

de Fluiter Kirsten , Acton Dennis , Hokken-Koelega Anita

Background: Early gain in fat mass (FM) might be influenced by type of feeding. Excessive gain in FM during the first three months of life is associated with an increased risk for adiposity and cardiovascular diseases. This three-month period is also known as the critical window for adiposity programming.Aims: To investigate differences in body composition between exclusively breastfed (BF) and formula fed (FF) infants from birth to 24 months.<p clas...

hrp0082fc10.4 | Programming &amp; Early Endocrinology | ESPE2014

Influence of Newborn and Maternal Factors on Neonatal Body Composition

Breij Laura , Hokken-Koelega Anita

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...

hrp0084p3-730 | Diabetes | ESPE2015

β-Cells’ Functional Exhaustion at Type 1 Diabetes Onset may Lead to Early Microvascular Complications

Papadopoulou Nektaria , Dacou-Voutetakis Catherine , Chrousos George , Kanaka-Gantenbein Christina

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

hrp0084p3-864 | Fat | ESPE2015

A Systemic Approach for the Management of the Program Entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence in Greece’

Kassari Penio , Papaioannou Panagiotis , Charmandari Evangelia

Background: The prevalence of obesity has increased dramatically in Greece in the last two decades, and more than 35% of children and adolescents are currently overweight or obese. Prevention could be the key strategy for controlling the current epidemic of obesity.Objective and hypotheses: Prevention is the main scope of the Program entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood a...

hrp0097p1-383 | Thyroid | ESPE2023

Clinical and molecular characteristics of 147 patients with primary congenital hypothyroidism: A single-center experience

Yavaş Abalı Zehra , Alavanda Ceren , Eltan Mehmet , Arslan Ateş Esra , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt İlknur , Keleştemur Elif , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

hrp0095t12 | Section | ESPE2022

Assessment of non-alcoholic fatty liver disease with non-invasive indices in adolescents with polycystic ovary syndrome

Context: Polycystic ovary syndrome (PCOS) is a complex disorder affecting women from adolescence until menopause. PCOS in adolescent years shares common features with clinical presentation in adulthood, including the adverse metabolic profile. Non-alcoholic fatty liver disease (NAFLD) is a spectrum of hepatic changes, from liver steatosis to severe inflammation and fibrinogenesis.Objective: To assess NAFLD in an adolesce...

hrp0092p1-52 | Fat, Metabolism and Obesity | ESPE2019

Effect of Feeding Mode on Longitudinal Body Composition in Early Life

de Fluiter Kirsten S , van Beijsterveldt Inge ALP , Acton Dennis , Hokken-Koelega Anita CS

Background: Excessive gain in fat mass (FM) during the first months of life, known as the critical window for adiposity programming, is associated with an increased risk for adiposity and cardiovascular diseases in later life. Early life nutrition (breastfeeding or formula feeding) might influence body composition (FM and fat free mass (FFM)) development in early life.Aims: To investigate differences in sex-specific long...

hrp0092p2-126 | Fat, Metabolism and Obesity | ESPE2019

Tracking Body Mass Index From Infancy into Childhood

Beijsterveldt Inge van , de Fluiter Kirsten , Acton Dennis , Hokken-Koelega Anita

Background and Aims: It has been postulated that the first 3 months of life are critical for programming of adult metabolic health. We investigated if Body Mass Index (BMI) and Fat Mass percentage (FM%) in early life tracks to 5 years of age and if feeding mode influences tracking.Methods: In 268 term born, healthy infants from the Sophia Pluto cohort (161 boys ), BMI was determined at 3 and 6 months, 2 and 5 years o...

hrp0089p1-p118 | Fat, Metabolism and Obesity P1 | ESPE2018

Longitudinal Changes in Abdominal Fat Distribution in the First Two Years of Life

van Beijsterveldt Inge , de Fluiter Kirsten , Acton Dennis , Hokken-Koelega Anita

Changes in abdominal fat distribution in the first months of life might be critical for adult metabolic health. Type of feeding might influence the abdominal fat distribution in early life. This study aims to determine whether type of feeding is related to abdominal fat distribution and whether changes in early life are associated with abdominal fat distribution at the age of 2 years.Methods: In the Sophia Pluto Cohort, infants are examined at age 1 and ...