Searchable abstracts of presentations at key conferences in endocrinology

ea0021p14 | Bone | SFEBES2009

Mutational analysis of the PHEX gene in three patients with X-linked hypophosphatemic rickets: discovery of a novel point mutation

Kienitz Tina , Ventz Manfred , Kaminsky Elke , Quinkler Marcus

Introduction: X-linked hypophosphatemic rickets is the most common form of familial hypophosphatemic rickets. It is caused by a defect in renal phosphate transport leading to phosphate wasting and hypophosphatemia. Furthermore 1,25-dihydroxyvitamin D concentrations are inappropriately normal in regard to hypophosphatemia. Clinical manifestation of the disease are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing. PHEX is locate...

ea0063p704 | Pituitary and Neuroendocrinology 2 | ECE2019

Sex differences in presentation but not in outcome for ACTH-dependent Cushing’s syndrome

Broersen Leonie , Haalen Femke van , Kienitz Tina , Biermasz Nienke , Strasburger Christian , Dekkers Olaf , Pereira Alberto

Background: Sex differences in clinical picture of ACTH-dependent Cushing’s syndrome are controversial, except for the known higher prevalence in females. We compared a broad range of potential differences to enable a more accurate understanding of the clinical picture of sex-specific ACTH-dependent Cushing’s syndrome.Design: Cohort study.Methods: We included consecutive patients with ACTH-dependent Cushing’s syndrom...

ea0063p705 | Pituitary and Neuroendocrinology 2 | ECE2019

Adrenal crisis in treated patients with Cushing’s syndrome

Broersen Leonie , Haalen Femke van , Kienitz Tina , Dekkers Olaf , Strasburger Christian , Pereira Alberto , Biermasz Nienke

Background: Adrenal crisis, the most feared complication of adrenal insufficiency, is a potentially life-threatening situation of acute glucocorticoid deficiency. After successful surgery, many patients with Cushing’s syndrome develop (transient) adrenal insufficiency. The incidence of adrenal crisis in patients treated for hypercortisolism is unknown.Methods: Cohort study including consecutive patients with Cushing’s syndrome with adrenal insu...

ea0014oc10.2 | Obesity & metabolism | ECE2007

11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) mRNA expression in liver of patients with non-alcoholic steatohepatitis

Konopelska Sarah , Kienitz Tina , Pirlich Matthias , Bauditz Jürgen , Stewart Paul M. , Lochs Herbert , Strasburger Christian J. , Quinkler Marcus

Background: Non-alcoholic fatty liver disease (NAFLD) is recognized as common liver disorder that represents the hepatic manifestation of the metabolic syndrome including visceral obesity, type 2 diabetes, insulin resistance and hyperlipidemia. Non-alcoholic steatohepatitis (NASH) is the progressive form of liver injury with the risk for progressive fibrosis, cirrhosis and end-stage liver disease. The pathophysiology that leads to NAFLD and NASH is not well understood. We hypo...

ea0013p171 | Diabetes, metabolism and cardiovascular | SFEBES2007

Abdominal obesity is associated with a decreased hepatic mRNA expression of 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) in patients with non-alcoholic steatohepatitis (NASH)

Konopelska Sarah , Kienitz Tina , Pirlich Matthias , Bauditz Juergen , Stewart Paul M , Hughes Beverly , Lochs Herbert , Strasburger Christian J , Quinkler Marcus

Background: Non-alcoholic fatty liver disease (NAFLD) is recognized as common liver disorder that represents the hepatic manifestation of the metabolic syndrome including visceral obesity, type 2 diabetes, insulin resistance and hyperlipidemia. Non-alcoholic steatohepatitis (NASH) is the progressive form of liver injury with the risk for progressive fibrosis, cirrhosis and end-stage liver disease. The pathophysiology that leads to NAFLD and NASH is not well understood. We hypo...

ea0059oc1.6 | Translational highlights | SFEBES2018

Germline CYP2W1*6 and CYP2B6*6 polymorphisms as predicting markers of sensitivity to mitotane treatment in advanced adrenocortical carcinoma: a multicentric ENSAT study

Altieri Barbara , Herterich Sabine , Sbiera Silviu , Volante Marco , Francia Silvia De , Casa Silvia Della , Pontecorvi Alfredo , Quinkler Marcus , Kienitz Tina , Mannelli Massimo , Canu Letizia , Chortis Vasileios , Kaltsas Gregory , Kroiss Matthias , Terzolo Massimo , Fassnacht Martin , Ronchi Cristina L

Adrenocortical carcinoma (ACC) is a rare tumor with poor prognosis and the only approved drug for advanced disease is mitotane. The cytochromes P450 (CYP) 2W1 and 2B6 are proposed predicting markers of sensitivity to mitotane treatment. Aim of the study was to evaluate the relationship between CYP2W1 and/or CYP2B6 polymorphisms and response to mitotane in ACC.Methods: We performed a multicentric retrospective study including 182 ACC patients (F/M=121/61)...

ea0056gp24 | Adrenal clinical | ECE2018

Germline CYP2W1*6 polymorphism is a new predictive marker of sensitivity to mitotane treatment in advanced adrenocortical carcinoma: a multicenter European study

Altieri Barbara , Herterich Sabine , Volante Marco , Sbiera Silviu , De Francia Silvia , Casa Silvia Della , Pontecorvi Alfredo , Quinkler Markus , Kienitz Tina , Mannelli Massimo , Canu Letizia , Chortis Vasileios , Kaltsas Gregory , Kroiss Matthias , Terzolo Massimo , Fassnacht Martin , Ronchi Cristina L

The cytochrome P450 2W1 (CYP2W1) is an orphan enzyme able to activate anticancer pro-drugs and to metabolise endogenous substances as fatty acids and lysophospholipids. Aim of the study was to evaluate the frequency of CYP2W1 polymorphisms in patients with adrenocortical carcinoma (ACC) and correlate it with the sensitivity to mitotane, which represents the only approved drug for the treatment of advanced ACC.Methods: A multicenter retrospective study in...

ea0063gp190 | Adrenal and Neuroendocrine - Clinical | ECE2019

Management and outcome of pregnancies in women with adrenal insufficiency: experience from a retrospective European study

Bothou Christina , Anand Gurpreet , Kienitz Tina , Seejore Khyatisha , Simeoli Chiara , Ward Emma G , Paragliola Rosa Maria , Ferrigno Rosario , Badenhoop Klaus , Bensing Sophie , Oksnes Marianne , Drake William , Wahlberg Jeanette , Reisch Nicole , Hahner Stefanie , Pearce Simon , Trainer Peter , Etzrodt-Walter Gwendolin , Thalmann Sebastien P , Saevik AEse B , Husebye Eystein , Isidori Andrea M , Falhammar Henrik , Meyer Gesine , Corsello Salvatore M , Pivonello Rosario , Murray Robert , Quinkler Marcus , Beuschlein Felix

Background and aims: Recommendations for the management of pregnancies in patients with adrenal insufficiency (AI) are scarce. The aim of this study was to analyse current clinical approaches in seventeen specialized centers across Europe with a particular focus on maternal and fetal outcome.Patients: 95 pregnancies in 86 patients with AI of different aetiology [Addison’s disease (n=37), secondary AI (n=22), congenital adrenal hype...