hrp0089p1-p158 | GH & IGFs P1 | ESPE2018

Patients and Caregivers Perspectives on a Mobile App that Tracks Adherence and Outcomes in Children with Growth Disorders Treated with Recombinant Human Growth Hormone (r-hGH)

McNally Mark , Long Frank , Poskitt Henry , Cancela Jorge , Koledova Ekaterina , Castro Javier Sanchez

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...

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-p310 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Can Basal Levels of Luteinizing Hormone (LH) Replace the GnRH Test in the Diagnosis of Precocious Puberty in Girls?

Llano Juan , Morales William , Pineda Catherine , Ortiz Teresa , Gil Nayibe , Laverde Gladys , Castro Sonia , Llano Mauricio

Aim: To determine the sensitivity, specificity of basal LH measurement compared to the GnRH test in patients with Central precocious puberty (CPP) and determine the cut off point for basal LH to diagnose CPP.Methods: 680 female patients were referred for presumptive diagnosis of central precocious puberty in the city of Bogota. All patients went through a GnRH test, using a Roche immunoassay for Luteinizing hormone (LH) and follicle stimulating hormone (...

hrp0082p1-d3-20 | Adrenals & 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...

hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

hrp0082p3-d2-888 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Neonatal Neurogenic Diabetes Insipidus: a Case Report

Alves Ines , Clemente Fatima , Castro-Correia Cintia , Pinto Helena , Guimaraes Hercilia , Fontoura Manuel

Background: Neurogenic diabetes insipidus (NDI) is extremely rare in the neonatal period. In most cases, it’s secondary to CNS injury. The clinical presentation in this group (particularly in preterm) is unspecific and a high degree of suspicion for the diagnosis is necessary.Objective and hypotheses: Diagnose NDI in a neonate with sodium and diuresis instability.Method: We present a case report.Results:...

hrp0084p1-2 | Adrenal | ESPE2015

Ontogeny of the Synchronisation between Adrenal Clock Genes, Adrenal Steroidogenesis-Related Genes and the Circadian Rhythm of the HPA Axis in Rats

Ruiz Silvia , Martins Clarissa , Castro Margaret , Antonini Sonir , Martinez Edson , Moreira Ayrton

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

hrp0092p3-168 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Efficacy of Growth Hormone Treatment in a Patient with Chronic Granulomatous Disease, who Developed Acute Myeloid Leukemia after Bone Marrow Transplantation

Bossini Benedetta , Pellegrin Maria Chiara , Tawfik Sameh , Maximova Natalia , Barbi Egidio , Tornese Gianluca

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

hrp0089p2-p109 | Diabetes &amp; Insulin P2 | ESPE2018

A Case of Neonatal Diabetes Due to Pancreatic Hypoplasia

Karabouta Zacharoula , Katsafiloudi Maria , Bisbinas Vasiliki , Karametou Margarita , Karali Chrisa , Giannopoulos Andreas

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

hrp0097p1-458 | Fat, Metabolism and Obesity | ESPE2023

Dietary and physical activity habits in children and adolescents in Greece

Petrou Ioulia , Ioannou Georgia , Manou Maria , Papadopoulou Marina , Tragomalou Athanasia , Kassari Penio , Charmandari Evangelia

Introduction: Obesity in childhood and adolescence is a major problem with many adverse consequences in public health due to its increasing prevalence, as well as the burden on the health system. Recently, the need to find effective intervention and prevention strategies for the management of obesity has led to the development of e-health technologies, which record behavioral data objectively and correlate them with factors that increase body mass index (BMI)....