Endocrine Abstracts

The calcium-sensing receptor (CaSR) is a G protein-coupled receptor with an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium-binding sites. The major site for calcium-binding is comprised of amino acid residues that line the cleft between the two lobes of the VFTD. We investigated the structure-function relationships of VFTD CaSR mutations identified in patients with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperpa...

Background: In January 2018, the 8th edition of the AJCC/TNM staging system for differentiated thyroid cancer (DTC) was introduced in clinical practice. Studies evaluating this 8th edition so far only comprised patients with papillary thyroid cancer (PTC) or made no distinction between PTC and follicular thyroid cancer (FTC). Therefore, we evaluated the prognostic value of the AJCC/TNM 8th edition in a European population with DTC, and subsequently distinguished PTC and FTC pa...

BackgroundThe 2015 American Thyroid Association (ATA) Risk Stratification System for differentiated thyroid cancer (DTC) is designed to predict response to therapy and recurring disease. Although age is not incorporated as a risk factor, recent research suggests that the addition of age can improve this system. However, these studies comprised low number of patients with ATA High Risk, low numbers of patients with follicular thyroid cancer (FTC), and did...

Introduction: Historically, treatment of follicular thyroid carcinoma (FTC) and oncocytic thyroid carcinoma (OTC) is based on thyroidectomy followed by radioiodine (RAI) therapy. Both tumor types have a good prognosis (10-year survival 80-94%), but this changes significantly once RAI-refractory disease occurs (median 3.5 years), which limits further treatment possibilities. The main risk factors for developing RAI-refractory disease in FTC and OTC are unknown. Our aim was to i...

Background: Previous genetic and animal studies implied a potential association between thyroid hormone and osteoarthritis (OA), but this has not been confirmed in the general population. We aim to investigate whether thyroid function is associated with hand, hip or knee OA.Methods: We included 9,054 participants from Rotterdam Study with baseline measurement of thyroid-stimulating hormone (TSH), free thyroxine (FT4) and radiographs. Joint radiographs we...

Background: Cardiometabolic risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ‘omic signature in SGA catch-up children predicts pre-hypertension in adolescence. Suboptimal fetal growth (SFG) alone may be linked with greater cardiometabolic risk. Therefore, we focused on cardiometabolic risk in children born following pregnancies at higher risk f...

Background: Gastrointestinal (GI) neuroendocrine tumours (NETs) are potentially malignant lesions originating from the enterochromaffin cells of the GI tract. These neoplasms often produce characteristic hormonal syndromes and can cause debilitating symptoms. Endoscopic submucosal dissection (ESD) is a well-established, complex, endoscopic technique, which allows for full resection of the mucosal and submucosal lesions without the need for open surgery.M...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...

Background: Resistance to thyroid hormone (TH) beta (RTHβ), caused by mutations in THRB, is characterized by elevated serum (F)T4 accompanied by non-suppressed TSH concentrations. Disease features arise from variable resistance to TH action in tissues expressing Thyroid Hormone Receptor (TR) β (hypothalamus, pituitary, liver) and from thyrotoxic effects in tissues expressing TRα (heart, bone, brain). In symptomatic patients, treatment mainly involves be...

Objective: To determine if the impact of pre-pregnancy body mass index (BMI), fasting glucose levels and post load glucose levels on large for gestational age neonates varies with ethnicity.Data sources: Electronic health records of all eligible pregnant women in an inner city service. Study designRetrospective analysis of pregnant women at risk of developing gestational diabetes mellitus (2016-2019) of. Population or sampleEligible pregnant women. Synth...