hrp0089p2-p307 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and Their Families

Lucaccioni Laura , Pugliese Marisa , Manzotti Elena , Bruzzi Patrizia , Righi Beatrice , Poluzzi Silvia , Madeo Simona F , Bigi Elena , Predieri Barbara , Iughetti Lorenzo

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patientÂ’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

hrp0095p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of The Arginine-Stimulated Copeptin Test in Polyuric Syndrome in Paediatrics. Experience in Three Patients

Gonzalez-Llorens Nuria , Biagetti Biagetti Betina , Mogas Viñals Eduard , Puerto Carranza Elsa , Tomasini Rosangela , Campos Martorell Ariadna , Yeste Fernandez Diego , Clemente Leon Maria

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

hrp0095p2-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary Macroadenomas in Childhood and Adolescence. Clinical Analysis of 7 Cases

Aguilar-Riera Cristina , González Núria , Mogas Eduard , Campos Ariadna , Fàbergas Anna , Vázquez Elida , Clemente María , Yeste Diego

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

hrp0089lb-p5 | Late Breaking P1 | ESPE2018

Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation

Valencia Gina Marcela Gonzalez , Castaneda Jessica Lorena Gonzalez , Avendano Maria Camila Velandia , Cadena Fabio Camilo Suarez , Fontecha Eliana Rocio Arango , Diaz Andres Felipe Ochoa , Rojas Victor Clemente Medonza

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0094p2-402 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Description of a new variant in the MAMLD1 gene in an infant with microphallus and hypospadias

Riera Cristina Aguilar , Tutaya Egusquiza Dellanira Pamela , Canestrino Gennaro , Fernández Paula , Camats Núria , Clemente María , Yeste Diego

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

hrp0097p1-543 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Phenotype and genotype in patients with growth hormone difenciency and pituitary morfology abnormality

Aguilar-Riera Cristina , González-Llorens Núria , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Fernández Paula , Vázquez Elida , Yeste Diego , Clemente María

Introduction: Congenital hypopituitarism is a heterogeneous disorder with isolated hormone deficiency(IPHD) or combined(CPHD). Main risk factors for CPHD include H-P abnormalities such agenesis corpus callosum(ACC), anterior pituitary hypoplasia(APH), ectopic posterior pituitary(EPP), pituitary stalk interruption(PSI), septo-optic dysplasia(SOD), and holoprosencephaly(HPE).Patients and Methods: Prospective and longitudin...

hrp0097p2-27 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Use of the arginine-stimulated copeptin test in polyuric syndrome in paediatrics. Experience in three patients

González Llorens Núria , Puerto Carranza Elsa , Mogas Viñals Eduard , Campos Martorell Ariadna , Yeste Fernández Diego , Clemente León María

Introduction: Differential diagnosis of partial arginine vasopressin deficiency (P-AVPD) and primary polydipsia (PP) can be challenging. Arginine-stimulated copeptin concentrations have been used to differentiate between arginine vasopressin deficiency (AVPD) and PP, setting a copeptin value of 3.8pmol/L at 60 min as a cut-off point in adults.Objective: To evaluate the efficacy and safety of the arginine-stimulated test ...

hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

hrp0086p2-p287 | Diabetes P2 | ESPE2016

Diabetic Ketoacidosis Risk Factors in the Initial Presentation of Type 1 Diabetes Mellitus in Children and Adolescents

Silva Silvia , Ferreira Lia , Aires Sofia , Freitas Joana , Oliveira Ma Joao , Cardoso Ma Helena , Borges Teresa

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 Diabetes mellitus (T1DM). It is important to know the factors associated with the development of DKA and elaborate preventive strategies to reduce their prevalence.Objective and hypotheses: To identify DKA predictive risk factors in the initial presentation of T1DM in children and adolescents.Method: We conducted a retrospective study, by analy...