Endocrine Abstracts

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...

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...

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...

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...

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...

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)...

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...

Background: The management of adjuvant mitotane therapy in patients with adrenocortical carcinoma (ACC) is challenging. Plasma mitotane concentrations>14 mg/l have been associated with efficacy in the treatment of advanced ACC; however, data in the adjuvant setting are mixed. Moreover, there is no consensus on how to assess the optimal exposure to mitotane and all the proposed methods have inherent limitations. We have recently proposed a new method analogous to what is es...

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...