hrp0094p2-157 | Diabetes and insulin | ESPE2021

A case of severe hypertriglyceridaemia complicating new-onset type 1 diabetes mellitus

Belkhatir Khadidja , Lokulo-Sodipe Oluwakemi , Frohock Anne-Marie , Basu Supriyo ,

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...

hrp0094p2-364 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypogonadotropic hypogonadism associated with X-linked ichthyosis due to X-chromosome microdeletion identified by chromosomal microarray

Kokoreva Kristina , Chugunov Igor , Kalinchenko Natalia , Latyshev Oleg , Samsonova Lyubov , Bezlepkina Olga ,

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

hrp0097p1-451 | Fat, Metabolism and Obesity | ESPE2023

Diagnostic Journey with an 80-gene Panel in Non-syndromic Early-Onset Severe Obesity: Association of Outcomes with Metabolic Status and Hyperphagia

Tercan Ummahan , Yildiz Melek , Dilruba Aslanger Ayca , Derya Kardelen Al Asli , Poyrazoglu Sükran , Bas Fİrdevs , Darendeliler Feyza

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

hrp0097p2-47 | GH and IGFs | ESPE2023

The Interaction between Growth Hormone (GH) -Insulin-like Growth factor 1 (IGF1) axis and Immune Systems in Infants and Children During undernutrition: Newly Discovered Pathological mechanisms.

Soliman Ashraf , Alaaraj Nada , Rogol Alan , Alyafei Fawzia , Hamed Noor , Ahmed Shayma , Soliman Nada

Accumulating evidence indicates various interactions between the GH-IGF1 axis and the immune system in infants and children during undernutrition.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between the GH-IGF1 axis and the immune system in infants and children during malnutrition. We reviewed 22 studies (2007-2...

hrp0098p3-6 | Adrenals and HPA Axis | ESPE2024

Induced Adrenal Insufficiency: Case series

Djermane Adel , Ouarezki Yasmina , Attal Asma , Maouche Hachemi

Background: Adrenal insufficiency (AI) is mainly due to congenital disorders in children. Acquired causes can be autoimmune, inflammatory, infectious but mainly drug induced especially due to prolonged exposure to excess glucocorticoids. Daily dose, duration, timing, as well as the route of administration can all play a role in. We present two patients with different clinical presentations.Case 1: A 8 year- old-girl refe...

hrp0095mte7 | Diagnostics and management of hyperandrogenism during childhood and adolescence | ESPE2022

Diagnostics and Management of Hyperandrogenism During Childhood and Adolescence

Voutilainen Raimo

The source of hyperandrogenism can be adrenal, gonadal, mixed or exogenous. The reason of excessive androgen secretion for age can be primarily gonadal/adrenal or it could be secondary to trophic stimulation (LH, hCG, ACTH, insulin, IGFs). Clinical signs of hyperandrogenism in children include virilization (clitoral hyperplasia, labial fusion, even unclear sex in a newborn), premature pubarche, premature penile growth, accelerated linear growth, increased musculature, acne and...

hrp0095p2-114 | Fat, Metabolism and Obesity | ESPE2022

Leptin receptor deficiency: a case report

Zufarova Yulduz , Kolodkina Anna , Tiulpakov Anatoly

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

hrp0095p2-288 | Thyroid | ESPE2022

Case Report: the rare case of pediatric myxedema due to an unrecognized chronic autoimmune hypothyroidism

Bonino Elisa , Matarazzo Patrizia , Buganza Raffaele , Tuli Gerdi , Munarin Jessica , Bondone Claudia , de Sanctis Luisa

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

hrp0092s1.2 | Novel Advances in Diabetes and Obesity | ESPE2019

The Gut Microbiome and Obesity

Scott Frank

The obesity pandemic is likely multifactorial, comprised primarily of reduced caloric expenditure and increased caloric intake secondary to dietary changes, coupled with host genetic predisposition and other environmental exposures. The role of the host microbiome in metabolism, energy expenditure, and metabolic disorders, including obesity, has more recently come under scrutiny as well. For example, several perturbations in the host microbiome have been associated with obesit...

hrp0092hdi1.1 | How Do I Session 1 | ESPE2019

Management of Subclinical Hypothyroidism

Salerno Mariacarolina

Subclinical hypothyroidism (SH) is a biochemical condition defined by increased TSH serum concentration above the upper limit of the reference range associated with normal concentrations of T4 and Free T4. Depending on the degree of TSH elevation SH can be defined mild for TSH values between 4.5-10 mIU/l and severe for TSH levels >10 mIU/l.The major cause of SH is chronic autoimmune thyroiditis, other causes are persistent neonatal hyperthyrotropinem...