Endocrine Abstracts

Thyroid hormones are essential for the proper development of a variety of tissues, especially the nervous system. Their transport into target cells is mediated by specific thyroid hormone transporters like the monocarboxylate transporter 8 (MCT8). Mutations in this X-chromosomal gene in humans lead to a severe phenotype characterized by psychomotor retardation, hypotonia, and a striking derangement of serum thyroid hormone levels: high T3 in the presence of low T4, and no sign...

The human adrenal cortex consists of three layers in which specific steroid hormones are produced. Human adrenal NCI-H295A (A) and NCI-H295R (R) cells, originate from the same adrenocortical tumor and express all genes essential for steroidogenesis. Therefore they often serve as a suitable model to study human steroidogenesis. No data are available comparing steroidogenesis of A vs. R cells. Assuming no difference, research data from these two cell lines are directly compared....

Background: Autoantibodies directed against complement C1q (anti-C1q) have been described in a number of systemic autoimmune disorders. In systemic lupus erythematosus, they are strongly associated with proliferative lupus nephritis. However, no study has focused on the presence of anti-C1q in organ specific autoimmune disorders. The aim of this study was to determine the prevalence of anti-C1q in autoimmune thyroid disorders (AITD).Methods: Serum levels...

Pseudohypoparathyroidism and related hormone resistance disorders have very heterogeneous clinical course and might be recognized only in the adulthood, particularly with the development of hypocalcemia. We present a 41 years old male patient who underwent a neurological investigation because of progressive muscle weakness and elevated creatinine kinase. Very low serum calcium (1.46 mmol/l) with hyperphosphatemia, low magnesium and high normal PTH were measured. The patient al...

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism. The first-choice therapy is administration of thyreostatic drugs. However, approximately half of patients relapse within two years of discontinuation. It is then necessary to decide whether to re-initiate thyreostatic treatment, which may have serious side effects, or to choose a radical approach (TTE, radioiodine). Familial forms of GD indicate that the disease has a significant genetic compo...

Introduction: To understand the pathological changes associated with glucose homeostasis in old age, it is necessary to know the natural changes in the processing of proinsulin into mature insulin. Surprisingly, while there is abundant information about insulin function in diabetics, the situation in healthy adults and old humans was rarely examined.The study aimed: To determine how the proinsulin secretion in individuals with normal glucose tolerance ch...

Steroid hormones and bile acids are potent regulators of metabolism. The enzyme 5β-reductase (AKR1D1) has a crucial role in bile acid synthesis and also generates 5β-reduced dihydrosteroid metabolites, regulating intra-cellular steroid availability though the clearance of cortisol, testosterone, androstenedione, and progesterone. As AKR1D1 sits at the interface of bile acid synthesis and steroid metabolism, we have hypothesised that it plays a key role in metabolic h...

Human adrenal H295R cells are applied according to the validated OECD test guideline 456 to identify potential endocrine disrupting chemicals. Testosterone and estradiol production serves as read-out although these are not steroids typically produced by the adrenals. The current study attempted to optimize conditions for using H295R cells to detect chemicals disturbing the synthesis of key adrenal steroids. Culture supernatants of H295R cells were analysed by LC-MS-based stero...

Recently, mutations in the PRKACA (catalytic subunit α of the PKA) gene have been identified as causative in 35% of adrenocortical adenomas (ACA) with overt Cushing’s syndrome (Beuschlein et al. 2014). These mutations lead to constitutive activation of PKA signaling and subsequently to an excessive production of cortisol. Protein kinase A is a heterotetramer consisting of two catalytic and two regulatory subunits with several isoforms (Cα, β, &#947...

Introduction: Systemic sclerosis (SSc) is a connective tissue disorder with higher prevalence in females which is characterized by vascular damage, pulmonary hypertension, inflammation and progressive fibrosis of skin and other internal organs such as lung. In the skin it has been shown that dermal adipose tissue atrophy and microangiopathy drive fibrosis development, however which is the underlying mechanism and whether this mechanism is responsible for the female prevalence ...