Endocrine Abstracts

Case Report: We reported a case of 54 year old lady who presented with symptomatic hyperthyroidism 11 years after total Thyroidectomy. She remained well controlled on average 100 mg of Levothyroxine until presented with persistently supressed TSH despite weaning off and later withdrawal of levothyroxine (T4 16 pmol/land TSH <0.03 pmol/l) and elevated Thyroid Stimulating Antibodies (TSI) (>40 iu/l). Her Thyroid ultrasonography showed remnants of thyroid tissue in the th...

Introduction: Thyroid hormone resistance due to a TRα mutation is rare and only recently described. We report a case of primary hyperparathyroidism in an adult patient with a known TRα mutation.Case presentation: A 60 year old female was referred with hypercalcaemia and hyperparathyroidism that persisted despite correction of vitamin D deficiency. Parathyroid hormone levels continued to be elevated or inappropriately normal with hyper- or normo...

Objective: A case study that demonstrates the importance of thorough psychiatric assessment, intervention and follow-up in morbidly obese patients presenting for Bariatric surgery and risk of addiction transfer.Background: Positive correlation between psychiatric disorders and obesity is documented. Cases of addiction transfer have been reported complicating outcome post Bariatric Surgery.Case description: A 29 year old Caucasian f...

SDH mutations that contribute 15%–20% of PCC/PGL syndromes predispose to the development of tumours that originate from Adrenal, Parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. We conducted a retrospective analysis to identify the prevalence of PCC/PGL and elevated biomarkers during initial screening in patients newly identified as carrying a pathogenic SDH mutation.Method: Data collection from our random cohort of patie...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Background: Following IHC of CALR, H-scoring was performed by a pathologist. H-scoring was validated by MIF of the same tissue, wherein random-forest machine learning (ML) classifiers were employed to classify cells. ML classifiers were trained to distinguish between pNET cells and tumor stroma using approximately 30% of cells for the respective cell population of interest in each TMA core. Pearson’s correlations were used to evaluate the relationship between H-scoring an...