hrp0094p2-260 | Growth hormone and IGFs | ESPE2021

Current growth hormone therapy practices in Belgium for the treatment of short children born small for gestational age

Thomas Muriel , Casteels Kristina , Rochtus Anne , van der Straaten Saskia , Van Aken Sara) , Fudvoye Julie , Boros Emese , Dotremont Hilde , Vanbesien Jesse , Mouraux Thierry , Chivu Olimpia , Logghe Karl , Reynaert Nele , Massa Guy , Depoorter Sylvia , Klink Daniel , Becker Marianne , Lysy Philippe , De Schepper Jean ,

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

hrp0089rfc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

hrp0094p1-133 | Growth Hormone and IGFs A | ESPE2021

Efficacy and safety profile of recombinant insulin like growth factor 1 (rh IGF1) therapy: A long term follow up study at a single tertiary centre.

Aftab Sommayya , Prentice Philippa , Katugampola Harshini , Tollerfield Sally , Atterbury Abigail , Shah Pratik , Peters Catherine , Gevers Evelien , Dattani Mehul ,

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

hrp0084fc1.2 | Adrenal | ESPE2015

Involvement of the Wnt/β-catenin Pathway, SF1, DAX1 and Stem/Progenitor Cell Markers in Paediatric Adrenocortical Tumors

Cavalcanti Marcelo M , Leal Leticia F , Coelli Fernanda B , Scrideli Carlos A , Molina Carlos A F , Tucci Silvio , Martinelli Carlos E , Yunes Jose A , Mastellaro Maria J , Moreira Ayrton C , Ramalho Leandra N , Castro Margaret , Antonini Sonir R

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

hrp0095p1-254 | Diabetes and Insulin | ESPE2022

Auxological parameters and metabolic control in children and young patients with type 1 diabetes 1-year after COVID-19 pandemic.

Iughetti Lorenzo , Bruzzi Patrizia , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Predieri Barbara

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...

hrp0095p1-435 | Diabetes and Insulin | ESPE2022

Are we sure that the prevalence of SARS-CoV-2 infection is not underestimated? Usefulness of serological antibodies assays in children and adolescents with type 1 diabetes

Predieri Barbara , Bruzzi Patrizia , Meacci Marisa , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Iughetti Lorenzo

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

hrp0092fc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Prenatal Environment and Genetic Background Influence Urinary Steroid Excretion in Monozygotic Twins with Intra-Twin Birth-Weight Differences

Schulte Sandra , Woelfle Joachim , Schreiner Felix , Kasner Charlotte , Gruenewald Mathias , Hartmann Michaela F. , Wudy Stefan A. , Bartmann Peter , Gohlke Bettina

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

hrp0092rfc7.6 | Diabetes and Insulin Session 2 | ESPE2019

Health-Related Quality of Life and Diabetes Control in Immigrant and Italian Children and Adolescents with Type 1 Diabetes and in their Parents

Predieri Barbara , Boncompagni Alessandra , Bruzzi Patrizia , Cenciarelli Valentina , Madeo Simona F. , Pugliese Marisa , Toffoli Carlotta , Bocchi Federica , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is a chronic metabolic disease that requires daily and complex management for both patients and their caregivers, impairing the quality of life. Aim of this cross-sectional observational study was to determine whether metabolic control and health-related quality of life (HRQOL) of T1D subjects and their parents could be influenced by immigration status.Methods: We enrolled 125...

hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...