Endocrine Abstracts

Cowden syndrome is an autosomal dominant disorder characterized by germline mutations in the PTEN tumour suppressor gene on 10q23.3 which mediates cell-cycle arrest and apoptosis. The diagnosis is primarily based on clinical findings including a combination of mucocutaneous lesions (trichilemmomas), macrocephaly, thyroid lesions (mainly follicular adenoma or carcinoma) and breast and endometrial cancer. The prevalence is estimated at 1/200 000. Lifetime risk for developing bre...

Background: Non-classical 21-hydroxylase deficiency (NC21OHD) is a mild form of congenital adrenal hyperplasia associated with different degrees of postnatal virilisation. Elevated serum androgen concentrations have been reported to be a risk factor for infertility, early pregnancy loss, and recurrent miscarriages in women with polycystic ovarian syndrome (PCOS).Aims: The aim of this study was to assess time to conceive and pregnancy outcome in NC21OHD w...

MiR-375 regulates growth and function of the pancreatic beta cell, the source of a multitude of secreted factors into the systemic circulation which facilitate metabolic processes, most notably insulin. Here we provide mass spectrometric analysis addressing the impact of miR-375 on the pancreatic beta cell secretome. Quantitative proteomics detected over 600 proteins released in response to glucose using the murine beta cell line, MIN6. Furthermore, the secretome profiles foll...

Background: The association between isolated office hypertension (IOH) and masked hypertension (MH) with left ventricular hypertrophy (LVH) and diastolic dysfunction cannot be the same, determining different increased cardiovascular risk.Aims: To evaluate the prevalence of MH and IOH in treated hypertensive patients with type 2 diabetes and their association with LVH and diastolic dysfunction.Methods: A cross-sectional study was co...

Objectives: Adrenocortical carcinoma (ACC) is a rare tumor with poor prognosis and limited therapeutic options. Survivin is an anti-apoptotic molecule expressed by neoplastic and tumor-specific endothelial cells of various carcinomas, but rarely or only weakly in normal differentiated tissue. In melanoma and pancreatic cancer, preliminary results of a survivin vaccination trial (www.clinicaltrials.gov) indicated that an immunological response in patients is often paralleled by...

Expression of the ACTH receptor (MC2R), a 7 transmembrane GPCR, has been difficult to achieve in cell lines that are not of adrenal origin. Heterologous expression of this gene in many cell lines (CHO, Hela, H295R, HEK293) produces a protein that is trapped in the ER, suggesting that an accessory factor(s) might be necessary to traffic MC2R through the cell. We recently identified such an accessory factor, MRAP that rescues MC2R expression in some, but not all, cell lines. Mut...

Familial Glucocorticoid Deficiency (FGD) [OMIM #202200] is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex to stimulate glucocorticoid production. It has previously been linked to mutations in the ACTH receptor (ACTHR) [FGD type 1] and a locus on chromosome 8q, but 70% of cases have no known cause. The aim of this study was to identify additional loci and genes for FGD using a linkage mapping strategy....

Background: Humans and other mammals need to maintain a stable core body temperature. Energy expenditure increases in response to a mild cold stimulus, this is called cold induced thermogenesis (CIT). Recently, thermogenic brown adipose tissue (BAT) has been found to play an important role for CIT in human adults. It is known that energy expenditure and CIT are acutely influenced by ambient temperature. In the present study, we investigated the effect of seasonal temperature v...

Overweight and obesity is an escalating global health problem, affecting 40% of the population and being the 5th largest cause of death worldwide. Treatment options are limited, with pharmaceutical approaches being inadequate and the success of bariatric surgery being limited by its invasive nature. The regulation of appetite by small bioactive compounds in the gastrointestinal tract is an important target in antiobesity research. Metabolites from diet and both host and microb...

Background: Diabetes mellitus is mainly characterized by a dysfunction of glucose metabolism. The growth of diabetes mellitus as a chronic condition requires continuous management and requires health services to implement care strategies. Diabetes education and self-care competence have been recognized over the last few decades as essential for patients with diabetes mellitus to achieve positive treatment results.Objective: To compare self-care competenc...