Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep790 | Late Breaking | ECE2021

Patients susceptible to an adrenal crisis show marked differences in urinary cortisol excretion and glucocorticoid sensitive pathways

Vulto Annet , van Faassen Martijn , Kerstens Michiel , van Beek Andre

BackgroundAdrenal crisis (AC) is a life threatening medical situation caused by an absolute or relative cortisol deficiency. A biological predisposition may be of importance, because some patients never experience an AC, whereas others are admitted repeatedly to the hospital for an AC. Differences in cortisol pharmacokinetics (PK) and/or pharmacodynamics (PD) may underlie this vulnerability.ObjectiveTo study ...

ea0037gp.29.07 | Endocrine tumours and neoplasia – Adrenal Tumour | ECE2015

Penetrance and optimal surveillance for SDHB mutation carriers

Eijkelenkamp Karin , Osinga Thamara E , de Jong Mirjam M , Sluiter Wim J , Dullaart Robin P F , Links Thera P , Kerstens Michiel N , van der Horst-Schrivers Anouk N A

Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson’s two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...

ea0032p510 | Endocrine tumours and neoplasia | ECE2013

Adrenocortical carcinoma: a population-based study on incidence and survival in the Netherlands since 1993

Kerkhofs Thomas , Verhoeven Rob , van der Zwan Jan-Maarten , Dieleman Jeanne , Kerstens Michiel , Links Thera , van de Poll-Franse Lonneke , Haak Harm

Introduction: Adrenocortical carcinoma (ACC) has a reported annual incidence of 0.5–2.0 cases per million individuals. Updated population-based studies on incidence are lacking. The aim of this nationwide survey was to describe the incidence and survival rate of ACC in the Netherlands. Secondary objectives were to evaluate changes in survival rates and in the number of patients undergoing surgery.Methods: All ACC patients registered in the Netherlan...

ea0021p231 | Growth and development | SFEBES2009

Phenotypic presentation of P450 oxidoreductase deficiency during puberty

Idkowiak Jan , O'Riordan Stephen , Reisch Nicole , Dhir Vivek , Malunowicz Ewa , Kerstens Michiel , Maiter Dominique , Collines Felicity , Silink Martin , Dattani Mehul , Shackleton Cedric , Krone Nils , Arlt Wiebke

P450 oxidoreductase (POR) transfers electrons to all microsomal P450 enzymes including CYP21A2 and CYP17A1, key enzymes of glucocorticoid and andogen synthesis, respectively. Mutant POR results P450 oxidoreductase deficiency (ORD) manifesting with glucocorticoid deficiency and disordered sex development in both sexes. Neonatal presentation with undervirilisation in boys and virilisation in girls is well described. However, there is a paucity of data on the pubertal phenotype i...

ea0081oc6.1 | Oral Communications 6: Endocrine-Related Cancer | ECE2022

Recurrent disease in patients with sporadic pheochromocytoma and paraganglioma

Li Minghao , Prodanov Tamara , Meuter Leah , Kerstens Michiel , Bechmann Nicole , Prejbisz Aleksander , Fassnacht Martin , Timmers Henri , Beuschlein Felix , Fliedner Stephanie , Robledo Mercedes , Lenders Jacques , Pacak Karel , Eisenhofer Graeme , Pamporaki Christina

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...

ea0041gp152 | Pituitary - Clinical | ECE2016

Effects of hydrocortisone substitution on blood pressure – results from an RCT

Buning Jorien Werumeus , van Faassen Martijn , Brummelman Pauline , Dullaart Robin P F , van den Berg Gerrit , van der Klauw Melanie M , Kerstens Michiel N , Kobold Anneke C Muller , Kema Ido P , Wolffenbuttel Bruce H R , van Beek Andre P

Background: Patients with secondary adrenal insufficiency show increased risk of cardiovascular disease. Higher doses of glucocorticoid replacement are related to an unfavourable metabolic profile. In the absence of randomized controlled trials assessing the effect of hydrocortisone dose on haemodynamics and blood pressure regulation, we determined effects of a higher vs a lower glucocorticoid replacement dose on blood pressure, the renin-angiotensin-aldosterone system (RAAS) ...

ea0081oc13.6 | Oral Communications 13: Adrenal and Cardiovascular Endocrinology 2 | ECE2022

Machine Learning models for the accurate prediction of malignant pheochromocytomas and paragangliomas

Pamporaki Christina , Berends Annika MA , Filippatos Angelos , Prodanov Tamara , Meuter Leah , Prejbisz Aleksander , Beuschlein Felix , Fassnacht Martin , Timmers Henri , Noelting Svenja , Abhyankar Kaushik Ganesh , Contsantinescu Georgiana , Kunath Carola , Wang Katharina , Remde Hanna , Januszewicz Andrzej , Robledo Mercedes , Lenders Jacques , Kerstens Michiel , Pacak Karel , Eisenhofer Graeme

Introduction: Pheochromocytomas and paragangliomas (PPGLs) exhibit an up to 20% malignancy rate. Various clinical, genetic, and pathological features have been proposed as predictors of malignancy. However, until present there are no robust indices to reliably predict metastatic PPGLs.Aim: The aim of the present study was to prospectively validate the value of methoxytyramine as risk marker of metastatic disease and establish a machine learning (ML) mode...