hrp0097p1-199 | Thyroid | ESPE2023

Investigating the Incidence of Mild Neonatal Hyperthyrotropinaemia, a Multicentre Study

Howard-James N , McGlacken-Byrne SM , Kernan R , Carolan EC , Murphy NP

Background: Mild isolated neonatal hyperthyrotropinaemia (HTT), defined as elevated thyroid stimulating hormone (TSH) with normal free thyroxine (FT4) concentrations, may be identified by newborn screening programmes for congenital hypothyroidism (CHT) or when neonatal thyroid function tests (TFTs) are performed for a clinical indication. Reported HTT incidence rates vary (from 0.001-0.1%)1. Case definition also varies, with some authors using a TSH...

hrp0098p1-101 | Thyroid 1 | ESPE2024

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline

Kurnaz Erdal , Turkyilmaz Ayberk , Yaralı Oguzhan , Sena Dönmez Ayşe , Çayır Atilla

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...

hrp0098p1-297 | Late Breaking 1 | ESPE2024

Three-year results on weight and eating disorders with digi-physical treatment in paediatric obesity: A pragmatic clinical trial

Hagman Emilia , Lindberg Louise , R. Putri Resthie , Drangel Andreas , Marcus Claude , Danielsson Pernilla

Background: The integration of mobile health technology with a limited number of physical visits shows promising treatment outcomes, but long-term evidence is lacking. Additionally, concerns about eating disorders following obesity treatment are common among families and caregivers, although data on this matter are scarce for children and adolescents. This study evaluates three-year weight outcomes for patients using a digi-physical treatment tool and reviews ...

hrp0092p1-151 | Thyroid | ESPE2019

Iodine Status in Newborns and Mothers in Georgia

Patsatsia Ekaterine , Gordzeladze Marine

Background and Aims: For years Georgia belonged to a iodine deficiency endemic region, though as a result of a long-term actions aimed at improving the iodine status the country today is a non-iodine deficient region. For this reason it was decided to study present iodine status of newborns and their mothers leaving in the capital of Georgia, which is no longer non-iodine region.Materials and Methods: In total 87 newborn...

hrp0082fc1.5 | Adrenal | ESPE2014

Antenatal Glucocorticoid Treatment and Polymorphisms in Glucocorticoid and Mineralocorticoid Receptor Genes are Associated with Long-Term Neurodevelopmental Outcomes in Preterm Survivors

van der Voorn Bibian , van der Pal Sylvia , Wit Jan , Meulenbelt Ingrid , Slagboom Eline , Rotteveel Joost , Finken Martijn

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

hrp0092rfc3.4 | Multi-system Endocrine Disorders | ESPE2019

Peripheral Glucocorticoid Metabolim May Reflect Resolution of Inflammation in Kawasaki Disease

Sai Shuji , Tamura Takuya , Nagumo Kiyoshi , Chapman Karen

Background: Kawasaki disease (KD) is an acute inflammatory disorder, associated with systemic vasculitis including coronary artery aneurysms (CAA). Treatment with intravenous immunoglobulin (IVIG) can resolve inflammation. However, about 20% patients show resistant to IVIG treatment and some of the cases required additional treatments. Recently, IVIG plus adjuvant glucocorticoid hormones (GC) has been shown to be an effective therapy for these patients, su...

hrp0095p1-170 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Increased Circulating Levels of Myo-inositol in Girls with Polycystic Ovary Syndrome

Üçer Bahadır Nisan , Metin Güler Eray , Kale Ebru , Aktaş Selman , Dağdeviren Çakır Aydilek , Kocabey Sütçü Zümrüt , Esen Firuzan , Beyaztaş Hakan , İmran Daştan Ali , Uçar Ahmet

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0098fc8.6 | Adrenals and HPA Axis 2 | ESPE2024

Plasma concentrations of renin and ACTH in children and adolescents from the general population: new reference intervals according to sex, age, and pubertal stage

Edström ernille , A. Holmboe Stine , Vilmann Lea , R. Grøndahl Veronica , E. Thomsen Charlotte , Ø. Fritzbøger Andrés , Aksglaede Lise , P. Hagen Casper , H. Petersen Jørgen , R. Jørgensen Niklas , Juul Anders , Holm Johannsen Trine

Introduction: Management of children with adrenal disorders such as congenital adrenal hyperplasia involves thorough clinical monitoring, including measurements of plasma renin concentrations (PRC) and ACTH. However, sex- and age-related reference intervals (RIs) for PRC and ACTH using novel immunoassays are needed.Aim: To evaluate circulating concentrations of renin and ACTH in children and adolescents from the general ...

hrp0095p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Primary Granulomatous Hypophysitis with Panhypopituitarism, presenting as Aseptic Meningitis in a 14-year-old boy

Stern Eve , R Cohen Zvi , Shrot Shay , Greenberg Gahl , Gruber Noah , Modan-Moses Dalit , Pinhas-Hamiel Orit

Background: Hypophysitis is an uncommon inflammatory disorder of the pituitary gland and is classified both clinically (Primary vs secondary) and histologically (lymphocytic, granulomatous or xanthomatous). Primary hypophysitis is exceptionally rare in the paediatric population with only a few cases reported, the majority being Lymphocytic Hypophysitis.Case Report: We present the case of a previously healthy 14-year-old ...