hrp0092p1-8 | Adrenals and HPA Axis | ESPE2019

Follow-up and Prevalence of Precocious Puberty in Children with Classical Congenital Adrenal Hyperplasia diagnosed by Neonatal Screening

Gonzalez Veronica , Reinoso Andrea , Vitale Laura , Morin Analia , Fasano Victoria , Tournier Andrea , Balbi Viviana

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

hrp0097p1-192 | Thyroid | ESPE2023

Remission in pediatric hyperthyroidism treated with methimazole

Ricci Jaime , Castro Bethania , Sabino Franco , Fasano Victoria , Tournier Andrea , Balbi Viviana , González Verónica , Morin Analía

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

hrp0097p1-583 | Thyroid | ESPE2023

Was newborn screening for congenital hypothyroidism affected by COVID19 lockdown?

Vitale Laura , Esposito Mariela , Francesca Jesica , Victoria Fasano María , Balbi Viviana , Tournier Andrea , Borrajo Gustavo , González Verónica , Morín Analía

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

hrp0094mte4 | Cystic Fibrosis-related diabetes | ESPE2021

Cystic Fibrosis-related diabetes

Kelly Andrea ,

Emerging in childhood and becoming increasingly prevalent to affect 40-50% of adults with cystic fibrosis (CF), CF-related diabetes (CFRD) is a common co-morbidity with the potential to negatively impact nutritional status, pulmonary function, and survival. Stymying interventions to preserve beta-cell function, the mechanisms underlying the progressive insulin secretion defects responsible for CFRD are poorly delineated. This meet-the-professor session will use case-based pres...

hrp0095t4 | Section | ESPE2022

Does Socioeconomic Status Play a Role in Paediatric Insulin Pump Access? A Systematic Review

Nahum Andrea , Alexandrou Demitra

*Both authors contributed equally to this workBackground: Continuous Subcutaneous Insulin Infusions (CSII) or insulin pumps improve overall glycaemic control in paediatric populations. Children’s access to CSII may partly depend on socioeconomic status (SES), healthcare systems, and funding structures.Aim: The aim of our systematic review was to evaluate whether SES affects children’s a...

hrp0095p1-599 | Thyroid | ESPE2022

Twin pregnancy with a hydatiform mole and coexisting liveborn infant, with maternal hyperthyroidism and neonatal hypothyroidism

Cecchi Griselda , Rampi Gabriela , Berger Malena , Forrester Andrea

Background: A twin pregnancy with a coexisting complete hydatiform mole and a healthy fetus is rare, with an incidence of 1 in 22.000-100.000 pregnancies. Associated with this condition are potencially serious maternal and fetal complications.Case Report: A 32 year old pregnant woman presented with clinical features of hyperthyroidism, confirmed by laboratory. An ultrasound scan revealed a complete hydatiform mole (CHM) ...

hrp0089p3-p037 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent’s Disease

Godoy Claudia , Grob Francisca , Gonzalez Gilberto , Vogel Andrea , Zambrano Pedro

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

hrp0086p1-p41 | Adrenal P1 | ESPE2016

RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions

Calanchini Matilde , Fabbri Andrea , Grossman Ashley , Jafar-Mohammadi Bahram

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...

hrp0082p1-d2-116 | Fat Metabolism & Obesity (1) | ESPE2014

Characterizing the Metabolically Obese Normal Weight Phenotype in Youth

Henderson Melanie , Mathieu Marie-Eve , Benedetti Andrea , Barnett Tracie

Background: Although metabolically obese normal weight (MONW) adults are at increased risk of type 2 diabetes and cardiovascular disease (CVD), little is known regarding MONW children.Objective and hypotheses: To characterize lifestyle habits and insulin dynamics of MONW children.Method: Caucasian youth (n=630) aged 8–10 years, with at least one obese biological parent, were studied (QUALITY cohort). We defined MONW c...

hrp0082p2-d1-368 | Fat Metabolism & Obesity | ESPE2014

MAINTAIN: an Intervention Study of Weight Regain After Weight Loss in Adolescents and Children Reveals an Only Minor Role of Leptin in Weight Regain

Wiegand Susanna , Bau Anne-Madeleine , Ernert Andrea , Krude Heiko

Background: Lifestyle interventions show a long lasting weight reduction in only 10–20% of obese children and adolescents. Leptin as one major player within the central regulation of food intake and energy expenditure is most likely to mediate the endogenous drive for weight regain.Objective and hypotheses: To estimate weight regain after weight loss and the role of leptin in regain.Method: We included 153 obese children/adole...