hrp0095rfc11.1 | Late Breaking | ESPE2022

Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity

Stenlid Rasmus , Y. Cerenius Sara , K. Aydin Banu , S. Gjessing Erik , Manell Hannes , Weghuber Daniel , Forslund Anders , Bergsten Peter

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

Florsheim Natan , Naugolny Larisa , Renbaum Paul , Lobel Orit , Y. Gold Merav , Goldberg Michal , Levy-Lahad Ephrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

hrp0089p3-p377 | Thyroid P3 | ESPE2018

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Keskin Mehmet , Yılmaz Seniha Kiremitci , Kaplan Emel Hatun Aytac , Karaoğlan Murat , Karaer Kadri , Keskin Ozlem

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...

hrp0086rfc5.5 | Management of Disorders of Insulin Secretion | ESPE2016

The Efficacy of Insulin Degludec in Children and Adolescents with Type 1 Diabetes

Bruzzi Patrizia , Maltoni Giulio , Predieri Barbara , Zucchini Stefano , Iughetti Lorenzo

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

hrp0084fc12.1 | Obesity - Clinical | ESPE2015

Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children

Bruzzi Patrizia , Colombini Giulia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

hrp0084p3-629 | Autoimmune | ESPE2015

Early-onset Type 1 Diabetes and Multiorgan Autoimmunity in a Girl with Partial Monosomy 2q and Trisomy 10p

Bizzarri Carla , Matteoli Maria Cristina , Patera Ippolita Patrizia , Cappa Marco

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

hrp0097p1-51 | Fat, Metabolism and Obesity | ESPE2023

GLP1 agonists improve glycaemic dysregulation, satiety levels and quality of life in adolescents with obesity

Apperley Louise , Parkinson Jennifer , Senniappan Senthil , Patrizia Bruzzi

Introduction: GLP-1 receptor agonists (GLP1A) have been shown to be effective in achieving weight loss in adolescents with obesity and improve glycaemic control in type 2 diabetes mellitus (T2DM). We aimed to investigate the glycaemic alterations and satiety levels in patients treated with the GLP1A, liraglutide. To the best of our knowledge, this is the first study of its kind.Methods: In total, 22 patients managed in a...

hrp0095rfc6.4 | Sex Development and Gonads | ESPE2022

Sertoli cell dysfunction at diagnosis in children with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , E. Gutierrez Marcela , Soria Marcela , Morán Lorena , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

hrp0095p1-49 | Diabetes and Insulin | ESPE2022

Impact of Metabolic-associated fatty liver disease (MAFLD) on the Cholesterol efflux capacity of High-density lipoproteins in adolescents with type 2 Diabetes

Antonio Orozco-Morales Jose , Torres-Tamayo Margarita , X. Medina-Urrutia Aida , Dies-Suárez Pilar , Méndez-Sánchez Nahum , Enrique Díaz-Orozco Luis , G. Medina-Bravo Patricia

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

hrp0092lb-7 | Late Breaking Posters | ESPE2019

Long-Term Evaluation of Ovarian Function and Follicular Reserve in Patients with Malignant Diseases Treated with Chemotherapy in Prepubertal or Pubertal Age

Josefina Arcari Andrea , Verónica Freire Analía , Paula Grinspon Romina , Bedecarrás Patricia , Eugenia Escobar María , Gabriela Ropelato María , Bergadá Ignacio , Rey Rodolfo , Graciela Gryngarten Mirta

The survival rate of young patients with cancer has greatly improved in the last decades, in part due to the introduction of new therapeutic agents and protocols.Chemotherapy may be associated with risk of ovarian dysfunction, permanent or transient amenorrhea, symptoms of ovarian insufficiency and infertility.It has been suggested that prepubertal ovary is less susceptible to deleterious effect of chemotherapy.<p class="abstex...