Endocrine Abstracts

Background: Arguably patients undergoing total thyroidectomy for papillary thyroid cancers (PTC) are more likely to have negative radioactive iodine uptake and low/undetectable thyroglobulin levels if the central compartment lymph node dissection (CCLND) is performed routinely irrespective of the macroscopic appearance of the LN. The aim of this study was to determine whether routine CCLND leads to more favourable outcome in the first year after treatment for well-differentiat...

Background: Concordant parathyroid localization studies using sestamibi and ultrasound scans allow minimally invasive parathyroidectomy to be the procedure of choice for patients with non-familial primary hyperparathyroidism (PHPT). This study investigates the financial implications of scan-directed parathyroid surgery.Methods: Analysis of hospital records for a cohort of consecutive unselected patients treated in a tertiary referral centre over a 5-year...

A 41 year old female presented to the haematologists with a coincidental finding of polycythaemia: haemoglobin 198 g/L, white blood cell count 8×109/L, platelets 236×109/L, haematocrit 0.57 L/L and red blood cell count 6.16×1012/L. Six years earlier haemoglobin 151 g/L, white blood cell count 7.7×109/L, platelets 297×109/L, haematocrit 0.4 L/L and red blood cell count 4.53×1012/L. S...

Glial-cell missing b (GCMB) is a parathyroid-specific gene whose loss results in parathyroid agenesis while haploinsufficiency of GATA3, which belongs to a family (GATA1-6) of dual zinc-finger transcription factors causes the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome. We investigated the possibility that GATA3 regulates GCMB expression. Our bioinformatics analysis revealed 5 putative GATA3 binding sites in the 1.3 kb region upstream of exon 1 of GCMB...

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours managed with pre-operative alpha+/- beta blockade prior to surgery. These patients are at risk of intra-and postoperative haemodynamic instability. The aim of this project was to review the outcomes of PPGL patients operated on between 2018-2023 at Cardiff and Vale UHB.Methods: Retrospective case notes (n = 29) review for data collection on baseline demograp...

Inbred laboratory mice are widely used to generate, by homologous recombination, transgenic and chemical mutagenesis routes, genetic models of human disease. However, physiological studies of such models are hampered by the lack of normal ranges for serum and urinary biochemistry, particularly in relation to acclimatisation following placement in metabolic cages. To establish such values, we investigated urinary and serum parameters in forty, 24–30 week-old C3H/HeH, BALB/...

Levothyroxine, the standard therapy for hypothyroidism, is usually well tolerated and very few cases of true allergy to levothyroxine have been reported to date. In these cases mechanisms have not been conclusively identified but have been hypothesized to be allergies to excipients. Here we report a rare occurrence of levothyroxine allergy and the effectiveness of desensitization. A 56-year-old lady with no previous history of allergies required a total thyroidectomy for Grave...

Renal stone disease is a common disorder for which the underlying causes remain largely unknown. We have investigated a hereditary renal calcification mouse model, Rcalc1, that is not associated with hypercalciuria for underlying mechanisms. Kidney RNA from 30 to 33 week-old Rcalc1 and control BALB/c and C3H female mice (n=4/group) was extracted and hybridised to Mouse Genome 430 2.0 arrays (Affymetrix). Following Robust Multichip Average normalization, pair-wise compar...

Vascular calcification, occurring in organs such as heart and kidneys, is associated with increased risk of cardiovascular mortality. The underlying molecular mechanisms remain unknown. To elucidate these, we investigated C3H mice, an inbred strain susceptible to vascular, myocardial and renal calcification. Myocardial calcification in C3H mice involves 4 genetic loci, Dyscalc1-4, that map to chromosomes 7, 4, 12 and 14, respectively. Dyscalc1 contributes to myoc...

Renal calcification (nephrocalcinosis), which has a multi-factorial etiology involving environmental and genetic determinants, affects ~8% of adults by 70 years. Nephrocalcinosis may occur as a familial disorder in ~65% of patients, and in 70% of patients, nephrocalcinosis may be associated with endocrine and metabolic disorders that include primary hyperparathyroidism, renal tubular acidosis, hypercalciuria, cystinuria, and hyperoxaluria. Investigations of families with hered...