Endocrine Abstracts

Background: Women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have a poor Quality of Life (QoL) compared to the general population and are less satisfied with their body appearance. Data indicates that psychosocial determinants such as good professional and general support could be associated with an improved QoL. Since there is only little data available that has been deduced from samples of small size this effect should be further examined....

Introduction: A once-daily modified-release formulation of hydrocortisone (Plenadren®) has been developed to better mimic physiological cortisol secretion in the treatment of patients with adrenal insufficiency (AI). Here, we describe EU-AIR, an ongoing post-authorization observational study (registry) designed to collect information on AI management and to assess the long-term safety of Plenadren® compared with traditional glucocorticoid replac...

Adrenal crisis (AC) is a life threatening condition in chronic adrenal insufficiency (AI). Furthermore, recent data demonstrate increased mortality in this patient group.Incidence and causes of adrenal crisis as well as general morbidity and hospitalization was assessed in 472 patients in a prospective trial. Patients were contacted via mail every 6 months and in case of AC additionally by phone to evaluate the exact circumstances of AC. Criteria for AC ...

Adrenocortical carcinoma (ACC) is part of the Li-Fraumeni tumour syndrome which is due to germline mutations in TP53. Recent studies demonstrate low penetrance mutations leading to later tumour manifestation. Furthermore, in ACC mutations outside the hotspot region have been found. TP53-polymorphisms have also been described to impact on p53 function. We, therefore investigated TP53 sequence alterations in a large cohort of adult patients with ACC.Method...

Background: Adrenocortical carcinoma (ACC) is a rare solid tumor with poor prognosis in advanced stages. The adrenolytic drug mitotane and cytotoxic chemotherapies are current treatment options with limited clinical efficacy. Animal experiments pointed to an adrenotoxic effect of sunitinib suggesting potential antineoplastic activity in ACC.Study population: Thirty-eight patients with advanced ACC progressing after mitotane and 1–3 cytotoxic chemoth...

Introduction: Chemokines and their receptors (CR) have been demonstrated to be involved in tumour growth and site specific metastasis. Furthermore, several cytokines have been described to modulate adrenocortical function. Therefore, we have investigated the expression pattern and functional activity of chemokine receptors and of corresponding chemokines in adrenocortical tissue.Methods: Chemokine and CR expression was assessed by RT-PCR in normal adrena...

Objective: There is evidence that current replacement regimens fail to restore well-being in patients with primary adrenal insufficiency (PAI). Few data is available on QoL in adult male and female patients with CAH.Methods: Patients with CAH or PAI were contacted and received a disease specific questionnaire and three standardized questionnaires (SF-36, GBB-24 and HADS). Reference data for SF-36 scores were obtained from the German National Health Surve...

Objective: There is evidence that current replacement regimens fail to restore well-being in patients with adrenal insufficiency (AI). No data is available on the effect of different therapeutical regimes (hydrocortisone, prednisolone, cortisone acetate) on the quality of life in these patients.Methods: About 883 patients with adrenal insufficiency were contacted, 526 patients participated (60%) and received a disease specific questionnaire and three sta...

Objective: There is evidence that current replacement regimens fail to restore well-being in patients with adrenal insufficiency. No data is available on the effect of twice or thrice daily administration of hydrocortisone on the quality of life in these patients.Methods: About 883 patients with adrenal insufficiency were contacted, 526 patients participated (60%) and received a disease specific questionnaire and three standardized questionnaires (SF36, ...

Objective: Pheochromocytoma is a rare disease with an incidence of 2–6 per million, and a prevalence of 0.1–0.6% in patients with hypertension. Pheochromocytoma may occur sporadically or as part of hereditary syndrome. According to the latest studies, among patients with non-syndromic pheochromocytoma, up to 24% of tumors may be inherited. However, genetic testing was not generally performed until recently. There is still a debate which pheochromocytoma patient shoul...