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...

hrp0092p1-124 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Human Model Showing the Ability of Testis XX Cells to Masculinise into Sertoli Cells and Success of Microtese Surgery in Paediatric Azoospermia

Atlas Gabby , Rombauts Luk , Wall Meaghan , MacGregor Duncan , Lall Paula , Harley Vincent , Hewitt Jacqueline

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

hrp0089p2-p206 | GH & IGFs P2 | ESPE2018

Identification of Three Novel GLI2 Gene Variants Associated with Hypopituitarism

Castro-Feijoo Lidia , Cabanas Paloma , Barreiro Jesus , Silva Paula , Couce M Luz , Pombo Manuel , Loidi Lourdes

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

hrp0089p2-p352 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Systematic Review of Reported Outcomes for Hypospadias

Leunbach Tina Lund , O'Toole Stuart , Springer Alexander , Williamson Paula , Ahmed S Faisal

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

hrp0089p3-p408 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Genetic Testing by SNP Array Analysis in A Group of Romanian Patients with Disorders of Sexual Development

Miclea Diana , Alkhzouz Camelia , Bucerzan Simona , Cret Victoria , Puiu Maria , Grigorescu-Sido Paula

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...

hrp0086rfc13.3 | Management of Obesity | ESPE2016

Effects of Eating Rate on Satiety Hormones, Meal Enjoyment and Memory for Recent Eating: An fMRI Study

Hawton Katherine , Hamilton-Shield Julian , Toner Paula , Ferriday Danielle , Rogers Peter , Hinton Elanor

Background: Controlling eating rate may be a mechanism for reducing calorie consumption. We need to understand the physiological basis of this to design effective paediatric interventions.Objective and hypotheses: This study investigated the effect of eating rate during lunch on post-meal neural response (fMRI), satiety hormone levels, appetite ratings (VAS), meal enjoyment, memory for recent eating and snack consumption.Method: Tw...

hrp0086p2-p161 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Identification of Predictor Factors of Growth Outcome in Children with Hypophosphatemic Rickets

Marin del Barrio Silvia , Sancho Paula Casano , Naderi Ruben Diaz , Cots Jordi Vila

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

hrp0082p1-d3-20 | Adrenals &amp; HP Axis (1) | ESPE2014

Salivary Cortisol as a Diagnostic Tool of Hypercortisolism in Primary Pigmented Nodular Adrenocortical Disease (ppnad)

Moreira Ayrton , Elias Paula , Bittar Marcelo , Martinelli Carlos Eduardo , Antonini Sonir , Castro Margaret

Background: Hypercortisolism due to PPNAD may be cyclical, atypical and may develop suddenly or progressively.Objective and Hypotheses: The performance of salivary cortisol (SF) in this rare cause of Cushing’s syndrome (CS) is lacking.Method: Ten patients (nine F/one M) with PPNAD (two sporadic; eight Carney complex) were evaluated. Among these, six had CS family history, while in two the diagnosis was confirmed by germline PR...

hrp0082p1-d1-233 | Thyroid | ESPE2014

TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia

Scaglia Paula , Keselman Ana , Papendieck Laura Gruneiro , Papendieck Patricia , Bergada Ignacio , Domene Horacio , Chiesa Ana

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...