Endocrine Abstracts

Dopamine receptors was suggested to be expressed in medullary thyroid cancer (MTC). The aim of the current study was to evaluate the expression of D2 dopamine receptor in MTC and the effectiveness of the dopamine agonist cabergoline in patients with MTC. Five paraffin-embedded cases of MTC obtained after thyroidectomy were used to evaluate D2 receptor expression by immunohistochemistry. Fifteen patients (7 males, 8 females, 36–78 years) with post-sur...

Cabergoline has been recently demonstrated to normalize cortisol secretion in more than one third of patients with Cushing’s disease (CD). The aim of this study was to evaluate short-term (3-months) and long-term (12-24 months) effects of cabergoline treatment on the main systemic complications of CD, including hypertension, glucose intolerance and dyslipidemia. Twenty patients with CD unsuccessfully treated by neurosurgery entered the study. Cabergoline was admistered at...

Mitochondrial dysfunction has been implicated in the pathogenesis of obesity and Type 2 Diabetes Mellitus (T2DM). Recent research has investigated the role of mitochondria in skeletal muscle and suggesting mitochondrial dysregulation may be linked to T2DM. To date few studies have focused on the role of human adipose tissue (AT) in energy homoeostasis. Therefore we investigated a number of mitochondrial genes including PPARγ co-activator1 (PGC1α, mitochondrial biogen...

In Northern Ireland, the sole tertiary referral centre for pituitary disease which includes neurosurgery and endocrinology for ~1.9 million people, is based in the Royal Victoria Hospital, Belfast. A retrospective study has been commenced to examine clinical, biochemical, histopathological and radiological data for all patients operated on across an approximately 20 year period in Northern Ireland. Ethical approval was obtained from the Northern Ireland Biobank (study num...

A 19-year-old gentleman, with Coffin-Siris-Syndrome(CSS)(ARID1B:c.6157dup gene-mutation), was referred to our endocrinology clinic, with rapid weight-gain and recent onset of Type-2-Diabetes. He was of short stature, he had central-adiposity, facial plethora, proximal myopathy and gynaecomastia. Endocrine testing revealed ACTH:61ng/l, Cortisol:772nmol/l, Total-Testosterone:2.8nmol/l, FSH:6.3U/l, LH:2.2U/l, Prolactin:87mU/l, IGF-1:61ug/l, TSH:0.18mU/l, T4:10.3 pmol/l, HbA1C:84m...

Background: Metastatic pheochromocytomas and paragangliomas are orphan neuroendocrine tumors. 50% of these tumors are associated with germline mutations of the SDHB gene. SDHB related pheochromocytomas and paragangliomas and many apparently sporadic tumors exhibit abnormal angiogenesis. This trial assessed the efficacy and safety of Cabozantinib, a potent, antiangiogenic, tyrosine kinase inhibitor. Methods: The Natalie trial is a single arm phase 2 clini...

Background: Metastatic pheochromocytomas and paragangliomas are rare neuroendocrine tumors with limited treatment options. We studied the efficacy and safety of off-label High-Specific-Activity I-131-meta-iodobenzylguanidine (HSA-I-131-MIBG) in routine clinical practice. Methods: This is a retrospective cohort study. The primary endpoint is objective response rate (ORR) as per RECIST v1.1. Secondary endpoints are blood pressure control, safety, overall a...

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

Background: The return to active long bone growth in puberty is a distinctly human event1 and occurs ~2 years earlier in girls compared to boys. Evolutionarily conserved networks of genes are associated with the developmental phases of childhood in multiple tissues2, implying the existence of a genetic program that controls the pubertal return to growth.Objectives: To identify biological functions associated with gender and age-rela...

Background: At a preplanned interim analysis (median follow-up 6.2 months) of the double-blind, phase 3 COSMIC-311 trial (NCT03690388), cabozantinib significantly improved progression-free survival (PFS) vs placebo (HR 0.22, 96% CI 0.13-0.36; P<0.0001) in 187 patients with previously treated radioiodine-refractory DTC (Brose, Lancet Oncol; 2021). Patients must have received lenvatinib or sorafenib and progressed during or after 1-2 prior VEGFR inhibitors. We prese...