hrp0097p2-154 | Multisystem Endocrine Disorders | ESPE2023

Hypoglycemia in a 9-month-old infant due to hyperinsulinism by ABCC8 variant

Pino Consuelo , Pizarro Hugo , Contreras Andy , Mayol Cristina , Karime Rumie Hana , Lacourt Patricia , Bassaure Javiera , Garcia Angelica , Postigo Javiera , Jara Mirta

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...

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 ...

hrp0095rfc10.4 | GH and IGFs | ESPE2022

Recombinant PAPP-A2 induces sex-specific increases in body weight and length and changes in bone microstructure in adolescent mice with longitudinal growth reduction induced by Pappa2 deletion

del Mar Fernández-Arjona María , Rubio Leticia , López-Gambero Antonio , Rivera Patricia , Vargas Antonio , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

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.<...

hrp0095p1-470 | Fat, Metabolism and Obesity | ESPE2022

High carbohydrate diet results in sex-specific differences in energy homeostasis in mice with PAPP-A2 deficiency

J. López Gambero Antonio , del Mar Fernández-Arjona María , De Ceglia Marialuisa , Rubio Leticia , Rivera Patricia , Vargas Antonio , Vera-Fernández Carlos , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...

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...