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 ...

hrp0094fc2.5 | Fat, Metabolism and Obesity | ESPE2021

Reference values for longitudinal body composition in children aged 0-5 years, using Dual-energy X-ray (DXA) absorptiometry

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

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

hrp0097fc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

hrp0097p1-265 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of Clinical and Genetic Characteristics of Non-Syndromic Monogenic Obese Patients

Özalp Kızılay Deniz , Durmaz Asude , Arslan Emrullah , Jalilova Arzu , Gül Balkı Hanife , Aykut Ayça , Gökşen Damla , Darcan Şükran , Özen Samim

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

hrp0086wg3.1 | ESPE Turner Syndrome Working Group (TS) | ESPE2016

Spontaneous Fertility and Pregnancy Outcomes in Turner Syndrome

Christin-Maitre Sophie

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

hrp0086p1-p224 | Diabetes P1 | ESPE2016

Space-time Environmental Associations in Childhood Type 1 Diabetes (T1D). A Case-control Geographical Approach in the ISIS-Diab Cohort

Bougneres Pierre , Le Fur Sophie , Valtat Sophie , Valleron Alain-Jacques , ISIS-Diab Network Network

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...