ESPE Abstracts

ESPE Abstracts

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hrp0092rfc10.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Contemporary Surgical Approach in CAH 46XX – Results from the I-DSD/I-CAH Registries

Hebenstreit Doris , Ahmed Faisal , contributing centres within the I-DSD registry and I-CAH registry on behalf of the , Springer Alexander , Krall Christoph , Krone Nils , Birkebaek Niels , Milenkovic Tatjana , Koehler Birgit , Flueck Christa , Krone Ruth , Balsamo Antonio , Rey Rodolfo , Acerini Carlo , Guven Alya , Guran Tulay , Darendeliler Feyza , Alvi Sabah , Korbonits Marta , Bonfig Walter , Correa Costa Eduardo , Ross Richard , Iotova Violeta , Konrad Daniel , Bryce Jillian , van der Grinten Hedi Claahsen , de Vries Liat

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...
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hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...
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hrp0094p1-6 | Adrenal A | ESPE2021

International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , Akker Erica van den , Bachega Tania Aparecida Sartori Sanchez , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , Kamp Hetty J van der , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...
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hrp0084p3-1045 | Growth | ESPE2015

Small for Gestational Age Incidence in One of the Regions of the Russian Federation

Petrova Irina , Shtina Marina , Kovalenko Tatiana

Background: Intrauterine growth retardation (small for gestational age (SGA)) is connected with perinatal morbidity, neurological pathology and stature.Objective and hypotheses: The aim of our study is to estimate the incidence of SGA and its consequences in newborns and infants at the age 1.Method: The incidence of SGA among newborns in the Udmurt Republic (the region of the European part of the Russian Federation) has been studie...
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hrp0094p2-463 | Thyroid | ESPE2021

The use of intravenous introduction of glucocorticoids in the active stage of graves’ ophthalmopathy in childhood. Clinical Case

Ivannikova Tatiana , Nagaeva Elena , Bezlepkina Olga

Clinical case: A 17-year-old patient was observed with a diagnosis of GD in October 2016. When the patient was examined in the hormonal profile there were hyperthyroidism, a high titer of antibodies to the TSH receptor, in connection of which thyrostatic therapy initiated. In dynamics since November 2018 there has been a pronounced increase in the total volume of the thyroid gland. Firstly she was examined at the Endocrinology Research Center in October 2019...
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hrp0092p2-109 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Syndrome in Children and Adolescents who Survived After Childhood Cancer

Zhukovskaya Elena , Gavrilova Anna , Nasedkina Tatiana , Chechelnitskaya Serafima , Lisitsa Tatiana , Karelin Alexander , Kasatkin Vladimir , Rumyantsev Alexander

Background/Objectives: During treatment of children and adolescents with cancer, an imbalance of carbohydrate and mineral metabolism may occur, leading to clinical manifestations of the components of the metabolic syndrome. The aim of the work was to study the frequency and severity of various clinical signs associated with metabolic syndrome in a cohort of patients from the Russian Field Clinical Rehabilitation Center.Design/Met...
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hrp0095p1-582 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

An International Study Of The Association Between Local Health Care Resources And Acute Adrenal Insufficiency Events In Children With Congenital Adrenal Hyperplasia

Tseretopoulou Xanthippi , R. Ali Salma , Bryce Jillian , Navoda Atapattu , H. Birkebaek Niels , Baronio Federico , Bonfig Walter , L. Claahsen-van der Grinten Hedi , Cools Martine , Darendeliler Feyza , Poyrazoglu Sukran , de Sanctis Luisa , Elsedfy Heba , J.J. Finken Martijn , E. Fluck Christa , Gevers Evelien , Korbonits Marta , Guran Tulay , Guven Ayla , A. Hughes Ieuan , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Iotova Violeta , Krone Ruth , Lichiardopol Corina , B. Mendonca Berenice , A. S. S. Bachega Tania , C. Miranda Mirela , Milenkovic Tatjana , Mohnike Klaus , Nordenstrom Anna , J. van der Kamp Hetty , Faisal Ahmed Syed

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...
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hrp0092p1-10 | Adrenals and HPA Axis | ESPE2019

Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia – Insights from the I-CAH Registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , van der Grinten Hedi L Claahsen , Krone Ruth , Acerini Carlo , Bachega Tania SS , Miranda Mirella C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy , Elsedfy Heba , Balsamo Antonio , Hannema Sabine , Higham Claire , Atapattu Navoda , Lichiardopol Corina , Guran Tulay , Abali Zehra , Mohnike Klaus , Finken Martijn JJ , Vieites Ana , Darendeliler Feyza , Guven Ayla , Korbonits Marta , de Vrie Liat , Costa Eduardo , Einaudi Silvia , van der Kamp Hetty , Iotova Violeta , Ross Richard , Faisal Ahmed S , Krone Nils P

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...
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hrp0092p1-167 | Adrenals and HPA Axis (1) | ESPE2019

Development of an International Benchmark for Sick Day Episodes as a Core Clinical Outcome in People with Congenital Adrenal Hyperplasia

Ali Salma , Daniel Eleni , Bryce Jillian , Ikiroma Adalia , Lewsey James , Ross Richard , Krone Ruth , Acerini Carlo , Krone Nils , Das Urmi , Tomlinson Jeremy , Korbonits Marta , Higham Claire , Darendeliler Feyza , Guran Tulay , Guven Ayla , Attapatu Navoda , Milenkovic Tatjana , Raducanu-Lichiardopol Corina , Hannema Sabine , Claahsen Hedi , Finken Martijn , Baronio Federico , Balsamo Antonio , Einaudi Silvia , de Vries Liat , Luczay Andrea , Neumann Uta , Blankenstein Oliver , Mohnike Klaus , Bonfig Walter , Elsedfy Heba , Birkebaek Niels , Iotova Violeta , Bachega Tania , Mendonca Berenice , Cools Martine , Costa Eduardo Correa , Filho Guilherme Guaragna- , Rey Rodolfo , Ahmed S. Faisal

Background: Congenital adrenal hyperplasia (CAH) is a rare condition characterised by adrenal insufficiency and a life-long risk of adrenal crises. There is a paucity of information on the epidemiology of acute adverse events in this population.Objective: To investigate the frequency, aetiology and consequences of acute adverse events attributed to adrenal insufficiency in CAH.Methods</stro...
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hrp0092p1-55 | Fat, Metabolism and Obesity | ESPE2019

A Novel Recurrent Heterozygous Plin1 Mutation in Three Russian Patients with Partial Lipodystrophy, Dyslipidemia and Insulin Resistance

Tikhonovich Yulia , Sorkina Ekaterina , Kolodkina Anna , Vasilyev Evgeniy , Petrov Vasiliy , Pogoda Tatyana , Vasiukova Olga , Tiulpakov Anatoly

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...
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