Endocrine Abstracts

Introduction: Consumptive hypothyroidism is a rare condition characterized by the aberrant expression and increased activity of thyroid hormone deiodinase type 3 (DIO3) in neoplastic tissue. This leads to an augmented conversion of thyroxine (T4) to the inactive reverse triiodothyronine (rT3). So far, most cases of consumptive hypothyroidism have been described in infants with hemangiomas.Case presentation: We report the case of a 64-year-old woman with ...

Background: Thyroid hormones are essential for normal development and metabolism. Their synthesis requires a normal function of thyroid follicular cells and adequate nutritional intake of iodine. Immortalized thyroid cell lines are widely used to study thyroid physiology and pathology. The best characterized and most widely used ones include the FRTL5 rat thyroid cell line and a derivative thereof, the PCCL3 cell line. A permanent human thyroid cell line is currently lacking. ...

Background: The water deprivation test as the accepted gold standard in the differential diagnosis of polyuria polydipsia syndrome can be associated with a decrease in extracellular fluid volume in patients with diabetes insipidus (DI). We herein evaluated mid-regional pro-atrial natriuretic peptide (MR-proANP) as marker of extracellular body volume in patients with diabetes insipidus compared to primary polydipsia (PP), at baseline and after water deprivation.<p class="ab...

Introduction: The correct differential diagnosis of the disorders related to polyuria–polydipsia syndrome (PPS) is mandatory since inadequate treatment may lead to serious complications. The diagnostic gold standard is the water deprivation test (WDT) with direct or indirect measurement of plasma vasopressin (AVP). But test interpretation is problematic, and direct measurement of AVP is hampered by methodological difficulties. The aim of this study was to evaluate the dia...

Background: KEAP1 gene (Kelch-like ECH-associated protein 1) that encodes the main inhibitor of nuclear factor erythroid 2-related transcription factor 2 (Nrf2), a central mediator of antioxidant responses, has been found to be one of the mutated genes that lead to familial multinodular goiter (MNG). The proposed association of KEAP1 with familial MNG is based on only two loss-of-function mutations in respective Japanese families. To date, there is no experim...

Background: Apelin and arginine-vasopressin (AVP) are antagonists in the regulation of body fluid and osmotic homeostasis. So far there exist no data about apelin levels in patients with polyuria-polydipsia syndrome (PPS).Methods: Plasma apelin and copeptin concentrations were measured in 15 patients with complete central diabetes insipidus (cDI), in seven patients with complete nephrogenic diabetes insipidus (nDI) and 19 patients with primary polydipsia...

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...