Searchable abstracts of presentations at key conferences in endocrinology

ea0051s4.3 | Diabetes Track 1: Symposium 4 | BSPED2017

Diabetes and technology. Current state of the art and future prospects

Acerini Carlo L

Advances in diabetes technology, particularly the introduction of continuous subcutaneous insulin infusion (CSII) pumps and of subcutaneous glucose sensing devices, have transformed the Type 1 diabetes (T1D) management landscape over the last 20 years. These devices have become more commonplace in our clinical practice, yet the evidence base that they have contributed to the modest improvements in glycaemic control in children and young people with T1D over these last two deca...

ea0034p342 | Steroids | SFEBES2014

Monitoring outcomes in congenital adrenal hyperplasia: have we been neglecting testosterone?

Sakai Naomi , Acerini Carlo

Background: Congenital adrenal hyperplasia (CAH) is a group of disorders caused by defects in one of the enzymes in the adrenal steroidigenic pathways. The most common form is 21-hydroxylase deficiency which leads to decreased production of cortisol and aldosterone and increased androgen production. Close monitoring of treatment is important so that adrenal suppression is achieved without excessive exposure to glucocorticoids. The current gold standard for monitoring in CAH is...

ea0063gp250 | Disturbances of Reproduction | ECE2019

Diagnostic potential of a ‘mouse azoospermia’ gene panel in human azoospermia: identification of novel genetic causes of meiotic arrest

Riera-Escamilla Antoni , Enguita-Marruedo Andrea , Moreno-Mendoza Daniel , Chianese Chiara , Ruiz-Castane Eduard , Maggi Mario , Baarends Willy , Krausz Csilla

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

ea0081p9 | Adrenal and Cardiovascular Endocrinology | ECE2022

Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery

Lopez Chiara , Parasiliti Caprino Mirko , Bioletto Fabio , Bollati Martina , Maletta Francesca , Caputo Marina , Gasco Valentina , La Grotta Antonio , Limone Paolo , Borretta Giorgio , Volante Marco , Papotti Mauro , Terzolo Massimo , Morino Mario , Pasini Barbara , Veglio Franco , Ghigo Ezio , Arvat Emanuela , Maccario Mauro

Objective: Various features have been identified as predictors of relapse after complete resection of pheochromocytoma, but a comprehensive multivariable model for recurrence risk prediction is lacking. The aim of this study was to develop and internally validate an integrated predictive model for post-surgical recurrence of pheochromocytoma.Methods: The present research retrospectively enrolled 177 patients affected by pheochromocytoma and submitted to ...

ea0081p128 | Endocrine-Related Cancer | ECE2022

Splicing machinery dysregulation in rare neuroendocrine tumors: pheochromocytomas and paragangliomas

Trinidad Moreno Montilla Maria , Blazquez Encinas Rey Ricardo , Mario Martinez Montes Angel , Garcia Vioque Victor , Alors-Perez Emilia , Mangili Federica , Agraz-Doblas Antonio , Robledo Mercedes , Castano Justo P. , Ibanez Costa Alejandro

Pheochromocytomas and paragangliomas (PPGL) are commonly benign catecholamine-producing neuroendocrine tumors (NETs); however, up to 25 % of patients develop distant metastases or aggressive behavior. The current classification of PPGL comprises pseudohypoxia-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation clusters according to their genomic characterization. However, to date, there are no biomarkers to help stratify patients based on their prognosis. Alternati...

ea0035p764 | Obesity | ECE2014

Improvement of type 2 diabetes after gastric banding and gastric bypass: medium-term outcomes

Caldas Ana Rita , Pereira Teresa , Garrido Susana , Freitas Claudia , Amaral Claudia , Carvalho Andre , Silva Isabel , Pichel Fernando , Silva Carla , Silva Antonio Sergio , Nogueira Carlos , Santos Jorge , Marcos Mario , Cardoso Maria Helena

Introduction: Bariatric surgery is associated with improvement and often resolution of type 2 diabetes mellitus (T2DM). Our aim was to compare the effects of gastric banding (GB) and gastric bypass (GBP) in glucose homeostasis in obese patients with T2DM.Methods: From 1995 to 2011, 83 diabetic patients underwent bariatric surgery at our hospital: 37 underwent GB (73% females, mean age 48.3±9.2) and 46 underwent GBP (82.6% females, mean age ...

ea0014s5.4 | Novel bioactive peptides – lessons from animals | ECE2007

Somatostatin, cortistatin and their new and old receptors: from comparative to translational endocrinology

Castaño Justo P. , Durán-Prado Mario , Vázquez-Martínez Rafael , Martínez-Fuentes Antonio J. , Gahete Manuel D. , Luque Raul M. , Malagón Maria M.

omatostatin, originally isolated from ovine hypothalami in 1973, and cortistatin, identified a decade ago in amphibians and then in human and rodents, are two highly related peptides thought to derive from a common ancestor gene. Owing to their high structural homology, both peptides bind with similar affinity to the five so-called somatostatin receptors (sst1-sst5), and exert virtually undistinguishable effects on several physiological targets, including inhibition of endocri...

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 ...

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...