hrp0092rfc5.4 | Thyroid | ESPE2019

Thyroid Dysfunction in Patients Following Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Aftab Sommayya , Goff Nicole , Langham Shirley , Amin Rakesh , Hindmarsh Peter , Brain Caroline , Shah Pratik , Spoudeas Helen , Dattani Mehul , Worth Austen , Katugampola Harshini , Peters Catherine

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

hrp0089fc11.6 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

Management of Severe, Protracted Hypocalcaemia in Patients Undergoing Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Goff Nicole , Katugampola Harshini , Monti Elena , Taylor Katherine , Amin Rakesh , Hindmarsh Peter , Peters Catherine , Pratik Shah , Spoudeas Helen , Dattani Mehul , Allgrove Jeremy , Brain Caroline

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

hrp0094p1-142 | Sex Endocrinology and Gonads B | ESPE2021

Investigation of primary adrenal insufficiency (PAI) in children with 46,XY differences in sex development (DSD)

Man Elim , Peters Catherine , Brain Caroline , Lichtarowicz-Krynska Ewa , Bahl Shailini , Buchanan Charles , Spoudeas Helen , Aitkenhead Helen , Hindmarsh Peter , Dattani Mehul , Achermann John ,

Background: When a baby presents with atypical genitalia, the most important diagnosis to consider is 21-hydroxylase deficiency (21OHD, CAH, 46,XX). However, primary adrenal insufficiency (PAI) can also occur in 46,XY children with differences in sex development (DSD), although this is less common. Known causes of 46,XY DSD-PAI include high blocks in steroidogenesis (STAR, CYP11A1); steroidogenic enzyme defects (HSD3B2, CYP17A1</...

hrp0084p3-746 | Diabetes | ESPE2015

Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

Martin-Frias Maria , Oyakawa Yoko P , Alonso Milagros , Roldan Belen , Alvarez M Angeles , Barrio Raquel

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

hrp0097rfc14.5 | Late Breaking | ESPE2023

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Diaz-González Francisca , Modamio-Høybjør Silvia , Lucas-Castro Elsa , Coral Barreda-Bonis Ana , Campos-Barros Angel , González-Casado Isabel , Sentchordi-Montané Lucia , E. Heath Karen

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

hrp0082p2-d3-480 | Hypoglycaemia | ESPE2014

The Role of Plasma C-Peptide Concentration in the Diagnosis of Congenital Hyperinsulinism

Green Julie , Giri Dinesh , Gangadharan Arundoss , Blair Jo , Dharmaraj Poonam , Das Urmi , Senniappan Senthil , Didi Mohammed

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

hrp0089rfc5.2 | Thyroid | ESPE2018

Analysis of Chosen Polymorphisms rs7138803 A/G - FAIM2, rs7093069 C/T - IL-2RA, rs5742909 C/T - CTLA-4 in Pathogenesis of Hashimoto’s Thyroiditis in Children

Bossowski Artur , Gościk Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Aversa Tommaso , Corica Domenico , Krętowski Adam , Waśniewska Małgorzata

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

hrp0084p2-290 | Diabetes | ESPE2015

C-Peptide Variation after the Diagnosis of Type 1 Diabetes in Paediatric Age

Correia Joana , Mendes Catarina , Pinheiro Marina , Preto Clara , Cardoso Helena , Oliveira Maria Joao , Borges Teresa

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

hrp0089p1-p101 | Fat, Metabolism and Obesity P1 | ESPE2018

Circulating Mots-C Levels are Decreased in Obese Male Children and Adolescents and Associated with Insulin Resistance

Du Caiqi , Zhang Cai , Wu Wei , Liang Yan , Hou Ling , Wang Anru , Ning Qin , Luo Xiaoping

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...