hrp0098p3-284 | Late Breaking | ESPE2024

Dramatic deterioration of subclinical hyperparathyroidism in children and adolescents during the post-COVID-19 period

Loutsou Maria , Dermitzaki Eleni , Christopoulos Panayiotis , N Michoula Aspasia , Mastorakos George , Diamantopoulos Stavros , N Grivea Ioanna , T Papadimitriou Dimitrios

Vitamin D is a steroid hormone, essential for the immune system and bone health. Given that sun exposure is meant to provide at least 80% of daily vitamin D requirements, the COVID-19 pandemic is likely to have a considerable influence on calcium metabolism We retrieved anonymized data on calcium metabolism parameters assessing the occurrence of subclinical hyperparathyroidism – subclinical nutritional rickets (PTH ≥ 45 pg/ml with normal serum Ca ≤ 10.5 mg/dl) in c...

hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Predictors of surgical outcomes in boys with hypospadias

Scougall Kathryn , Bryce Jillian , Baronio Federico , L Boal Rachel , Castera Roberto , Castro Sebastián , Cheetham Tim , Correa Costa Eduardo , Darendeliler Feyza , Davies Justin , Dirlewanger Mirjam , Gazdagh Gabriella , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Herrmann Gloria , Holterhus Paul-Martin , Karagözlü Akgül Ahsen , Markosyan Renata , Nordenstrom Anna , McElreavey Kenneth , Lopes Miranda Marcio , Poyrazoglu Sukran , Russo Gianni , Schwitzgebel Valerie , Steigert Michael , Faisal Ahmed S. , K Lucas-Herald Angela

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0098p2-320 | Late Breaking | ESPE2024

Screening for celiac disease in children and adolescents with type 1 diabetes, what to do?

Pilar Achón Buil Ana , García-Boente Marina , Constanza Matus Sáez Tania , García Cuartero Beatriz , Alkadi Fernández Khusama , Martín Frías María , Corredor Andrés Beatriz , Roy Ariño Garbiñe , Yelmo Valverde Rosa , Belén Roldán Martín María

Introduction: The reported prevalence of celiac disease (CD) in paediatric patients with type 1 diabetes mellitus (T1D) ranges from 1.6 to 16.4%, with a tendency to increase in recent years. Most clinical guidelines recommend screening for CD at the diagnosis of T1D but conclude different recommendations regarding subsequent screening, hence the importance of providing new data in this population group.Methods: We presen...

hrp0095p1-212 | Adrenals and HPA Axis | ESPE2022

Molecular Analyses of A Virilized Newborn. Implications in Clinical Management

Llorente Martín Elena , Jesús Dabad Moreno María , Bravo Gómez Adrián , Martínez Figueras Laura , Arriba Domènech María , Ruiz Cano Rafael , Ezquieta Zubicaray Begoña

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...

hrp0095p2-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital Hypopituitarism and Diabetes Insipidus with Normal Radiological Pituitary Gland and a Mutation in IRF2BPL.

Jesús Dabad Moreno María , Ruiz Cano Rafael , Carmen Carrascosa-Romero María , Cerdán Oncala Sandra , Belén Delgado García Ana , De las Heras Gómez Lucía

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

hrp0097fc1.6 | Adrenals and HPA Axis | ESPE2023

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

van der Zwan Y.G. , Schrӧder M. , Stikkelbroeck N.M.M.L. , Reisch N. , Falhammar H. , Roeleveld N. , Claahsen-van der Grinten H.L.

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

hrp0097p1-357 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of the pituitary gland in patients with Fanconi Anemia

Corredor Andrés Beatriz , Solis Muñiz Inés , Zubicaray Josune , Martín Rivada Álvaro , Barrios Sabador Vicente , Sevilla Julián , Argente Jesús

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

hrp0098p3-50 | Diabetes and Insulin | ESPE2024

The Effect of Continuous Glucose Monitoring Device Assistance on Glycaemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Türkiye Earthquake Doublet: A Multicentre Study

Tarçın Gürkan , Ataş Nurgül , Çay Mevra , Cansu Şahin Kadriye , Trabzon Gül , Dündar İsmail , Çiçek Dilek , Gül Balkı Hanife , Manyas Hayrullah , Bitkay Abdurrahman , Celiloğlu Can , Özdemir Dilek Semine , Kılıç Sümeyra , Düzcan Kilimci Duygu , Ata Aysun , Çamtosun Emine , Mengen Eda , Karaoğlan Murat , Yüksel Bilgin , Uçaktürk Ahmet

Objective: The aimis to evaluate the effect of continuous glucose monitoring device (CGMD) assistance provided to the children with type 1 diabetes following the 2023 Türkiye earthquake compared with those that did not benefit from this assistance, as well as to investigate the changes in sensor parameters during 9-month usage of CGMD.Methods: This retrospective study included 11 centres from 7 provinces in the disa...