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Endocrine Abstracts

Published by BioScientifica

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ea0063gp187 | Adrenal and Neuroendocrine - Clinical | ECE2019

Primary adrenal insufficiency in children: results from a large nationwide cohort

Improda Nicola , Esposito Andrea , Capalbo Donatella , Cappa Marco , Ferro Giusy , Balsamo Antonio , Baronio Federico , Russo Gianni , Lascio Alessandra Di , Greggio Nella Augusta , Tosetto Ilaria , Valenzise Mariella , Wasniewska Malgorzata , Maghnie Mohamad , Radetti Giorgio , Longhi Silvia , Betterle Corrado , Salerno Mariacarolina

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...
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ea0063gp197 | Adrenal and Neuroendocrine - Clinical | ECE2019

Optimizing mineralocorticoid replacement therapy in patients with congenital adrenal hyperplasia and Addison’s disease

Pofi Riccardo , Prete Alessandro , Thornton-Jones Vivien , Bryce Jilian , Ali Salma , Ahmed Faisal , Koehler Birgit , Balsamo Antonio , Acerini Carlo , Cannuccia Amalia , Guven Ayla , Guran Tulay , Darendeliler Feyza , Higham Claire , Bonfig Walter , De Vries Liat , Mendonca Berenice B , Iotova Violeta , Krone Nils P , Krone Ruth , Lenzi Andrea , Arlt Wiebke , Ross Richard , Isidori Andrea M , Tomlinson Jeremy W

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...
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ea0031p148 | Growth and development | SFEBES2013

The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry

Cox Kathryn , Bryce Jillian , Jiang Jipu , Rodie Martina , Sinnott Richard , Alkhawari Mona , Arlt Wiebke , Audi Laura , Balsamo Antonio , Bertelloni Silvano , Cools Martine , Darendeliler Feyza , Drop Stenvert , Ellaithi Mona , Hiort Olaf , Hughes Ieuan , Lisa Lidka , Morel Yves , Soder Olle , Ahmed S Faisal

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...
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ea0059p181 | Reproduction | SFEBES2018

Gonadectomy for adults with DSD conditions at risk of hypogonadism in the international disorders of sex development registry

Herald Angela Lucas , Kyriakou Andreas , Bryce Jillian , Rodie Martina , Acerini Carlo , Arlt Wiebke , Balsamo Antonio , Baronico Federico , Bertelloni Silvano , Brooke Antonia , van der Grinten Hedi Claahsen , Cools Martine , Darendeliler Feyza , Davies Justin H , Desloovere An , Ellaithi Mona , Fica Simona , Gawlik Aneta , Guran Tulay , Hannema Sabine , Hiort Olaf , Holterhus Paul-Martin , Iotova Violeta , Jennane Farida , Lachlan Katherine , Li Dejun , Lisa Lidka , Mazen Inas , Mladenov Wilchelm , Mohnike Klaus , Nedelea Lavnia , Niedziela Marek , Nordenstrom Anna , Poyrazoglu Sukran , Rey Rodolfo , Tadokoro-Cuccaro Rieko , Weintrob Naomi , Ahmed Syed Faisal

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...
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ea0066oc1.1 | Oral Communications 1 | BSPED2019

Exploring trends in the glucocorticoid and mineralocorticoid treatment of congenital adrenal hyperplasia by analysing data from the I-CAH registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , Grinten Heidi L Claahsen-van der , Krone Ruth , Bachega Tania SS , Miranda Mirela C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy W , Elsedfy Heba , Balsamo Antonio , Ortolano Rita , 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 , Vries Liat de , Costa Eduardo , Einaudi Silvia , Kamp Hetty van der , Iotova Violeta , Ross Richard , Ahmed S Faisal , Krone Nils

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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