hrp0097p2-90 | Multisystem Endocrine Disorders | ESPE2023

Autosomal dominant hypocalcemia: A diagnostic and therapeutic challenge

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Azpilicueta Idarreta Maria , de la Camara Moraño Carmen

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

hrp0097p2-252 | Late Breaking | ESPE2023

Pump management of genetic and autoimmune diabetes under 1 years old: two case reports.

Martino Mariangela , Gutierrez De Rubalcava Doblas Joaquin , Cusinato Maria , Gabrielli Claudia , Negri Arianna , Righetto Elena , Moretti Carlo

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

hrp0086p1-p374 | Gonads & DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

hrp0084p3-637 | Autoimmune | ESPE2015

About a Case of Basedow-Graves’ Disease in a Infant

Bassaid M A , Bouriche K , Senouci D , Mazari W , Kaddour F Hadj , Ghellai F , Bendjelloul A , Medjahdi A , Berber N , Bendeddouche A S

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

hrp0089p2-p289 | Multisystem Endocrine Disorders P2 | ESPE2018

Statural Growth and Endocrinopathies in Relation to Liver Iron Content (LIC) and Insulin-Like Growth Factor 1 (IGF-I) Concentration in Adolescents with Beta Thalassemia Major (BTM) and Sickle Cell Disease (SCD)

Soliman AShraf , Yassin Mohamed , Sanctis Vincenzo DE , Moustafa Abbas , Samaan Sandra Abou , Nashwan Abdulqadir

We evaluated growth parameters and endocrine disorders in relation to the quantity of liver iron (LIC) measured by the Ferriscan method and insulin-like growth factor 1 (IGF-I) level in a cohort of adolescents with sickle cell disease (SCD) (n=40) and beta thalassemia major (BTM) (n=52) receiving nearly the same protocol of transfusion and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl ...

hrp0094fc9.1 | Growth Hormone and IGFs | ESPE2021

How to interpret growth hormone stimulation test results in children and adolescents with overweight and obesity? A systematic review and meta-analysis and evidence-based proposal for weight-status adjusted cut-offs

Abawi Ozair , Augustijn Dieuwertje , Hoeks Sanne , Rijke Yolanda de , van den Akker Erica ,

Background: Peak stimulated growth hormone (GH) levels are known to decrease with increasing BMI, possibly leading to overdiagnosis of GH deficiency (GHD) in children with overweight and obesity. However, current guidelines do not provide guidance how to interpret peak GH values of these children. The aim of this systematic review and meta-analysis was to study the effect of BMI standard deviation score (SDS) on stimulated peak GH values in children, to identi...

hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

hrp0095p1-468 | Fat, Metabolism and Obesity | ESPE2022

Long term impact of a lifestyle intervention on anthropometry and biochemical parameters in patients with abdominal obesity

Cristina Azcona-Sanjulian Maria , Catalán Ana , Ojeda-Rodriguez Ana , Gea Alfredo , Chueca María , Berrade Sara , Marti Amelia

Aim: to assess and follow-up anthropometric and biochemical parameters in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an intensive phase duri...

hrp0086rfc13.5 | Management of Obesity | ESPE2016

Protective Potential of Metformin on Membrane Linked Functions in Diabetic Aging Female Rats

Kumar Pardeep , Baquer N

Objective: The objective of this study was to investigate protective potential of metformin on membrane linked functions and glucose transporter in diabetic aging female rats.Background: The emerging view is that diabetic brain features many symptoms that are best described as accelerated brain aging.Methods: Young (3 months) adult (12 months) and aged (24 months) rats will be diabetic by using alloxan monohydrate. After metformin ...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...