hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0082p3-d1-952 | Sex Development | ESPE2014

Discordant Genotypic Sex and Concordant Phenotypes in Two Spanish Siblings with 17α-Hydroxylase/17, 20-Lyase Deficiency Carrying the Most Prevalent Mutated Alleles in Brazilian Patients

Audi Laura , Fernandez-Cancio Monica , Melon-Pardo Marta , Garcia-Garcia Emilio

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...

hrp0084p3-817 | Endocrine Oncology | ESPE2015

Two Synchronous Central Nervous System Tumors in a Child with Neurofibromatosis Type 1

Cornean Rodica Elena , Scutariu Monica , Ungureanu Gheorghe , Farcau Dorin , Florian Stefan

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

hrp0084p3-819 | Endocrine Oncology | ESPE2015

Early Endocrine Complications in Survivors of Childhood Malignant Tumours

Sanchez-Gonzalez Cristina , Andrades-Toledo Monica , Cardeno-Morales Alvaro , Torralbo-Carmona Alicia , Garcia-Garcia Emilio

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

hrp0084p3-1203 | Thyroid | ESPE2015

Newborns of Mothers with Graves’ Disease: Survey of 14 Years

Cardoso Rita , Jeronimo Monica , Caetano Joana Serra , Dinis Isabel , Mirante Alice

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

hrp0097p1-513 | Growth and Syndromes | ESPE2023

Efficacy of Once-Weekly Treatment for Paediatric Growth Hormone Deficiency: A Systematic Literature Review and Indirect Treatment Comparison

Schaible Kassandra , Huelin Rachel , Loftus Jane , Nijher Monica , Neupane Binod , Cappelleri Joseph , Fahrbach Kyle

Introduction: Paediatric growth hormone deficiency (pGHD) is a rare disorder characterised by inadequate secretion of growth hormone (GH). Daily injections of somatropin, a recombinant human GH, is the standard of care. Once-weekly GH treatments have been recently developed, but no direct comparisons have been published. This study examined the clinical efficacy of the available once-weekly treatments vs. daily treatment for pGHD via a systematic literature re...

hrp0097p2-8 | Growth and Syndromes | ESPE2023

Growing Tall and Staying Slim During a Pandemic: The Power of rGH

Pop Raluca-Monica , Aurelian Tiuca Robert , Maria Radulescu Flavia , Ionela Pascanu Maria

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...

hrp0095rfc11.2 | Late Breaking | ESPE2022

Dynamics of meal-related plasma asprosin levels

Corica Domenico , Pepe Giorgia , Aversa Tommaso , Currò Monica , Curatola Selenia , Li Pomi Alessandra , Alibrandi Angela , Ientile Riccardo , Wasniewska Malgorzata

Background: Asprosin is an adipokine involved in glucose homeostasis and its plasma levels physiologically increases in fasting conditions and decreases with refeeding. In non-diabetic children and adolescents with obesity, insulin resistance (IR) and impaired fasting glucose (IFG) seem to influence the physiological variation in meal-related asprosin levels 120 minutes after an oral glucose load (Corica et al. doi:10.3389/fendo.2021.805700). No data ...

hrp0095p1-596 | Thyroid | ESPE2022

Central and peripheral sensitivity to thyroid hormones and glucose metabolism in childhood obesity.

Corica Domenico , Rosaria Licenziati Maria , Calcaterra Valeria , Currò Monica , Curatola Selenia , Rossi Virginia , Ientile Riccardo , Aversa Tommaso , Wasniewska Malgorzata

Objectives: Increased central and peripheral sensitivity to thyroid hormones seems to be associated with an increased risk of developing prediabetes in adulthood. The objective of this study was to evaluate the relationship between the severity of obesity, the presence of glyco-metabolic alterations, and tissue sensitivity to thyroid hormones in prepubertal euthyroid children with simple obesity.Methods: Eighty prepubert...

hrp0092rfc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Screening for Congenital Hypothyroidism: Analysis of a Large Coorte of Affected Patients (1987-2017) and Relationship with Perfluoroalkylated Substances (Pfas) in North-Eastern Italy

Gaudino Rossella , Beccherle Federico , Cavarzere Paolo , Lauriola Silvana , Camilot Marta , Teofoli Francesca , Vincenzi Monica , Rizzoli Christian , Antoniazzi Franco

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...