hrp0098p1-278 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Water deprivation test in children: challenging but still necessary to diagnose central diabetes insipidus

Donaire Sousa Carolina , Gon Perez Nardoque Beatriz , Teresa Alves Sarti de Paula Mariana , Casale Aragon Davi , Custodio Moreira Ayrton , Conde Lamparelli Elias Paula , Roberto Rauber Antonini Sonir

Introduction: It is challenging to differentiate central diabetes insipidus (CDI) from Nephrogenic Diabetes Insipidus (NDI) or Primary Polydipsia (PP) in patients with polyuria-polydipsia syndrome, especially in the pediatric population. Despite its limited accuracy and low tolerance in children, the water deprivation test (WDT) is still used as a reference.Objectives: To review indications and outcomes of pediatric pati...

hrp0098p1-303 | Late Breaking 1 | ESPE2024

Treating Arginine Vasopressin Deficiency in Infants is a Challenging Condition: A 20-year Single-Center Study

Gon Perez Nardoque Beatriz , Donaire Sousa Carolina , Casale Aragon Davi , Condé Lamparelli Elias Paula , Teresa Alves Sarti de Paula Mariana , Roberto Rauber Antonini Sonir

Introduction: The management and follow-up of paediatric patients with arginine vasopressin deficiency (AVP-D) is challenging, particularly in infants (0-2 years). Few studies have examined the particularities of AVP-D in this age group.Objectives: To describe clinical, laboratory, and demographic characteristics of AVP-D in infants at diagnosis and to describe the follow-up during the first years of life. To ascertain c...

hrp0097p1-429 | Diabetes and Insulin | ESPE2023

Increased Incidence of New-Onset Type 1 Diabetes and Diabetic Ketoacidosis in Children and Adolescents During Coronavirus Pandemic

Milioni Luciano Thais , Govêa Machado Gabriela , Peduti Hallah Oharomari Mariana , Antonini Sonir , Del Roio Liberatore Jr Raphael , Tereza Alves Sarti Mariana

Introduction: Since the beginning of the coronavirus pandemic, an increase in cases of new-onset type 1 diabetes (T1D) in children and adolescents has been observed in many countries, including Brazil.Objectives and Methods: In this descriptive study, we aimed to investigate the frequency of new-onset T1DM and the frequency and severity of diabetic ketoacidosis (DKA) in a referral Brazilian University Hospital, 38 months...

hrp0084p2-400 | GH & IGF | ESPE2015

Regulation of IGF1R mRNA Expression by GnRH Agonist may be Involved in the Decrease of Height Velocity During Central Precocious Puberty Therapy

De Paula Mariana Sarti , Ricco Rafaela , Custodio Rodrigo , Milani Soraya , Atique Patricia , Moreira Ayrton , Antonini Sonir , Liberatorejr Raphael , Martinelli jr Carlos

Background: Growth spurt is a major event in central precocious puberty (CPP). GnRH analogue (GnRHa) therapy inhibits gonadal axis and decreases height velocity. However, serum IGF1 and IGFBP-3 remain high as before therapy. Reports on IGF type 1 receptor (IGF1R) in CPP are yet unavailable.Aim: To study IGF1R mRNA expression in girls with CPP before and during GnRHa therapy.Methods: 34 girls with CPP were studied. Sixteen of them (...

hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0092p1-229 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

"Endocrine Evaluation of 29 Cornelia de Lange Syndrome Patients (CdLS) Patients"

Matamala Angela Marina Ascaso , de Ávila Montoya José Mario Romero , Cereza Maria Teresa Llorente , Lidón Laura Trujillano , Fuentes Feliciano Ramos , Juste Juan Pie , Lozano Gloria Bueno

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

hrp0097p2-285 | Late Breaking | ESPE2023

Combined treatment with leuprolide acetate and burosumab in X-linked hypophosphatemic rickets and precocious puberty: a therapeutic response

Tempone Cardoso Penna Gustavo , Michelle de Araújo Evangelista Nara , Costa Figueiredo Carolina , de Fátima Tonetto Fernandes Vânia , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , de Paula Colares Neto Guido

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0082fc12.1 | Obesity | ESPE2014

High-Fat Diet Rapidly Triggers Circadian De-Synchronization of Clock Genes, Neuropeptides and Inflammation Mediators in the Hypothalamus of C57BL Mice

Hernandez-Nuno Francisco , Ruiz-Gayo Mariano , Diaz Francisca , Argente Jesus , Chowen Julie A

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...