Endocrine Abstracts

Background: Telomerase reverse transcriptase (TERT) promoter mutation is a poor prognostic factor in differentiated thyroid carcinoma(DTC). It is thought to play a role in the transformation process to undifferentiated thyroid carcinoma(UTC), but its role as a prognostic factor in UTC is unclear. Therefore, in this study, we investigated whether the TERT promoter mutation acts as as an independent poor prognostic factor in UTC.Methods: Among patients dia...

Background: Patients with Bardet-Biedl syndrome (BBS), a rare syndrome associated with obesity and hyperphagia, commonly manifest traits of metabolic syndrome, including abdominal obesity, impaired fasting glucose, low high-density lipoprotein cholesterol, hypertriglyceridemia, and hypertension. Setmelanotide treatment results in significant improvement in weight, hunger, and quality of life in these patients and may improve measures associated with metabolic syndrome developm...

Introduction: Patients with a germline loss-of-function mutation in AIP are predisposed to young-onset GH excess resulting in gigantism or acromegaly. Acromegaly leads to disease-specific cardiomyopathy with biventricular hypertrophy and diastolic dysfunction progressing to fulminant cardiac failure if left untreated, therefore it is vital to have a tractable animal model to investigate the diseaseFindings: Our AipFlox/Flox;<...

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...

A 65-year-old Afro-Caribbean gentleman, with a >10-year history of hypertension, frequently recorded blood pressures of >160/80 mmHg. His serum electrolytes showed Na+ 145 mmol/l and K+ 3.2 mmol/l. MRI demonstrated 13 mm left medial-limb adrenal adenoma. His hypertension was uncontrolled on treatment with amlodipine 10 mg OD, spironolactone 50 mg OD, losartan100 mg OD and doxazosin 16 mg OD. Although his quality of life was reduced, and he dislike...

Introduction: AIP mutations are responsible for 15-30% of cases of familial isolated pituitary adenomas. The pathophysiology that drives this AIP-related pituitary tumorigenesis is not fully understood. We developed a pituitary-specific Aip knockout (KO) mouse model, which mostly recapitulates the human phenotype.Aims: To performed comparative gene expression analysis of Aip-KO mouse pituitary tumours and AIP mutation positive ...

Background: Minimally invasive parathyroidectomy relies on accurate localisation of the culprit gland. Combination of US plus Technetium 99m-sestamibi is considered the gold standard. CT parathyroid is thought to be a valuable tool in the pre-operative localisation.Aim: To evaluate the diagnostic performance of 2D CT parathyroid in patients with primary hyperparathyroidism (PHP).Methods: This was a single-institution prospective st...

Background: PD-1/PD-L1 blockade is one of the promising drugs in the treatment of advanced non-small cell lung cancer (NSCLC). and predicting drug effect is important due to unique pattern of response. Immune-related adverse event (IRAE) might be associated with favorable clinical outcome. Thyroiditis is the most common IRAE which can be easily detected with the measurement of thyroid hormone levels. However, the relationship between thyroid dysfunction during the use of PD-1/...

Adiponectin has been thought to exert important influences in energy homeostasis and insulin signalling pathway. Some obese individuals showed paradoxical hyperadiponectine-mia (HA), however, the effect of HA on bone metabolism has not been fully clarified.This study aimed to evaluate bone strength and metabolic parameters according to the presence of HA and obesity in Korean adults. A total of 9,172 adults (59.4% women) aged 40–70 years assessed in...

Background: In the previous study, it was demonstrated that pancreatic steatosis was significantly associated with subclinical atherosclerosis in patients with non-obese T2DM. As the result, it was suggested that pancreatic steatosis might be related to macrovascular complication of T2DM. However, the association of pancreatic steatosis on microvascular complication of T2DM has been unknown.Objective: This study aimed to investigate the relation between ...