Endocrine Abstracts

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 ...

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...

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...

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...

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 ...

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) ...

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...