hrp0094p2-55 | Adrenals and HPA Axis | ESPE2021

Twin infants with salt-wasting: double the trouble

Graneiro Ana , Aguilar Abisad Daniela , Dantas Marina , Gonzalez Aragon Camila , Tarkoff Joshua ,

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

hrp0094p2-79 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical, molecular characterization and long-term follow-up of a patient with neonatal severe hyperparathyroidism

Padeira Goncalo , Carvalho Ana Isabel , Cavaco Branca M. , Virella Daniel , Lopes Lurdes Afonso ,

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

hrp0094p2-186 | Fat, metabolism and obesity | ESPE2021

Diagnostic accuracy of Tri-Ponderal mass index (kg/m3) for identifying glucose intolerance in obese children and adolescents.

Arciniegas Larry , Mogas Eduard , Tomasini Rosangela , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

hrp0094p2-381 | Pituitary, neuroendocrinology and puberty | ESPE2021

Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis

Rezende Raissa , Jorge Alexander , Noronha Renata , Keselman Ana , Andrade Nathalia , Dantas Naiara , Bertola Debora , Malaquias Alexsandra ,

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

hrp0095p1-364 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pneumonia as the first manifestation of pediatric pulmonary carcinoid tumor

Oprescu Raluca , Cima Luminita , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Fica Simona

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

hrp0095p2-61 | Diabetes and Insulin | ESPE2022

Ketoacidosis and Age Distribution in New-Onset Type 1 Diabetes During Covid-19 Pandemic

Vinkovic Maja , Krnic Nevena , Bogdanic Ana , Dumic Kubat Katja , Braovac Duje , Spehar Uroic Anita

Background:There are numerous reports indicating increased risk of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes (T1D) in childhood during COVID-19 pandemic. Delayed diagnosis, reduced access to immediate health care and psychological effects of pandemic have been suggested as possible reasons.Methods: We conducted cross sectional, single-center study at Department of Pediatrics, University Hospital Center Zag...

hrp0095p2-180 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: three case reports

Moscoso Joana , Cirurgião Filipa , Dias Joana , Laura Fitas Ana , Diamantino Catarina , Pina Rosa , Lopes Lurdes

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

hrp0086p2-p769 | Pituitary and Neuroendocrinology P2 | ESPE2016

Novel Uses of Psychiatric Drugs to Treat Hypothalamic Obesity

Julian Maria Cristina Azcona San , Gomez-Cardenas Francisco Javier Aguilar , Falconi Jose Luis Leon , Elicegui Amaia Ochotorena , de las Heras Ana Navedo , Lamban Ana Catalan , Martin Patricia Sierrasesumaga , de Almiron Monica Prados Ruiz , Martin Eduardo Arnaus

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

hrp0084p2-459 | Growth | ESPE2015

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva Alfonso , Garre-Vazquez Ana Isabel , Santaolalla-Caballero Fabiola , Belinchon Alberta , Barreda-Bonis Ana Coral , Vasques Gabriela A , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Benito-Sanz Sara , Jorge Alexander A , Campos-Barros Angel , Heath Karen E

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

hrp0092p3-283 | Late Breaking Abstracts | ESPE2019

Comparison of Densitometric Aspects during the Transition Period in Patients with Congenital and Acquired Pituitary Deficiency: First Argentine Experience

Boquete Hugo , Boquete Carla , Ruibal Gabriela , Suarez Martha , Azaretzky Miriam , Nuñez Chavarria Eleonora , Sequera Ana , Fideleff Hugo

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...