hrp0094p1-72 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project

Plachy Lukas , Bryce Jillian , Mohnike Klaus , Gan Hoong-Wei , Shaikh Guftar , Rozenkova Klara , Mozzillo Enza , Maltoni Giulio , Navardauskaite Ruta , Casteels Kristina , Stuart Annemarie Verrijn , Dastamani Antonia , Empting Susann , Verkauskiene Rasa , Ahmed S. Faisal , Sumnik Zdenek ,

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

hrp0089p2-p005 | Adrenals and HPA Axis P2 | ESPE2018

Perioperative Care of CAH – Incongruencies of Practices among Canadian Specialists

Nour Munier , Gill Hardave , Mondal Prosanta , Inman Mark , Urmson Kristine

Introduction: In pediatric years, the most common cause of primary adrenal insufficiency is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Current Endocrine Society guidelines advocate for the use of perioperative supraphysiologic (often referred to as ‘stress dose’) glucocorticoids for children with primary adrenal insufficiency undergoing general anesthesia or surgery. We perceived a difference in practice patterns amongst pediatric subspeci...

hrp0095p1-498 | GH and IGFs | ESPE2022

A Long-Acting Growth Hormone Module For Paediatric Growth Hormone Deficiency In The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions – The GloBE-Reg LAGH Study

Miller Bradley , Savendahl Lars , Hickman Krystina , Smythe Christopher , Chen Ching , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Horikawa Reiko , Jorge Alexander , Faisal Ahmed S.

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

hrp0092p1-350 | Fat, Metabolism and Obesity (2) | ESPE2019

Metabolic Risk in Long-Term Survivors of Childhood Acute Lymphoblastic Leukemia

Belcheva Milena , Iotova Violeta , Usheva Nataliya , Bocheva Yana , Popova Ralitsa , Pancheva Ruzha , Hristozova Hristina , Kaleva Valeriya

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

hrp0089p1-p075 | Diabetes &amp; Insulin P1 | ESPE2018

Open Source Artificial Pancreas Systems Used from Bulgarian Children and Young People with Diabetes

Konstantinova Maia , Kozak Milos , Radev Radoslav , Pandova Rositza , Dimova Hristina , Georgiev Rumen

Introduction: The new technologies in diabetology improved not only HbA1c, but also ‘Time in range’, ‘Glycemic variability Index ‘/GVI/, and ‘Patient’s Glycemic Status’ /PGS/. Parents of children and patients with diabetes demonstrated impatience for artificial pancreas systems /APS/. They initially created ‘Nightscout’ platform for remote monitoring of the glucose sensors and then – Do It Youself Open Source Artificial Pancrea...

hrp0084p3-1126 | Pituitary | ESPE2015

Outstanding Growth Response to Growth Hormone Replacement Therapy in 3 Different Cases of Growth Hormone Deficiency

Saranac Ljiljana , Djuric Zlatko , Markovic Ivana , Stamenkovic Hristina , Lazarevic Dragoljub , Cvetkovic Vesna

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patient’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...

hrp0098p3-159 | Growth and Syndromes | ESPE2024

Results from the first stage of the Programme for early detection and follow-up of children born small for their gestational age in Bulgaria

Zlateva Tanya , Krumova Darina , Pramatarova Tanya , Krasteva-Vilmosh Maya , Petleshkova Penka , Georgieva Ralitsa , Stoyanova Hristina , Mumdzhiev Hristo , Iotova Violeta

Introduction: Worldwide the incidence of small for gestational age (SGA) births varies between 2 and 10%. In Bulgaria there is not enough data for the SGA births prevalence in the last 20 years. There is only one population based study focused on late SGA complications that found the world-known relative share of SGA children who don’t catch up - about 10%. The indicated growth hormone treatment is still not reimbursed in the country for short SGA childr...

hrp0084fc2.3 | Bone &amp; Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

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...

hrp0097p1-365 | 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 ...