Endocrine Abstracts

Understanding human pancreatic beta cell differentiation provides safe, normal pathways by which to manipulate stem cells for the ambitious treatment of Type 1 diabetes (1-3). The transcription factor Neurogenin 3 (Ngn3) is a transient, yet critical regulator of this process, committing progenitor cells to an endocrine cell fate (4). However, the downstream consequences of NGN3 expression remain incompletely understood.To identify new target genes of NGN...

A case of ectopic ACTH with severe opportunistic infectionECI Hatfield, S Pal, K Meeran, G Williams, JF Todd.Endocrine Unit, Imperial College, Hammersmith Hospital, London, UKA twenty six year old female presented with symptoms and signs suggestive of Cushing's Syndrome. Initial investigations showed hypokalaemia (potassium 2.3nmol/L), elevated urinary free cortisols, (3400, 18,000, 31,000 nmol/24 hour (NR <270)), diabetes (fasting glucose =9 mmol/L), loss of di...

Thyroid hormones thyroxine and triiodothyronine are essential for development, growth and metabolism. The prohormone thyroglobulin (Tg) is stored in high concentrations and in covalently cross-linked form within the lumen of thyroid follicles. Thyroid hormones are liberated from Tg in a regulated manner in that TSH triggers the secretion of lysosomal enzymes into the extracellular follicle lumen where they solubilize covalently cross-linked Tg and liberate thyroxine by partial...

Background: Most patients consulting an endocrinologist for hypercalcemia suffer from primary hyperparathyroidism. Rarely, toxic vitamin D levels can also induce hypercalcemia while suppressing parathyroid hormone (PTH) levels. Infantile hypercalcemia can be caused by mutations in CYP24A1 (24-hydroxylase), which are inherited in an autosomal recessive manner (1). This enzyme is responsible for the inactivation of 25-OH-vitaminD (25-OHD) and 1,25(OH)2vitaminD3</...

Case presentations: Case 1: The index case is a 10 year old girl who presented episodic symptoms of feeling unwell, unexplained headache, seizure, vomiting and dehydration over a period of 8 months. She was subsequently found to have systemic hypertension which led to further investigations revealing raised plasma noradrenaline of 32 and 103.7 (NR 0–5 nmol/). US abdomen suggested bilateral pheochromocytoma but an MIBG showed unilateral left sided increased uptake. She und...

Introduction/Background: ACTH production from a midgut mesentery NET is extremely rare (1). A 62y old woman presented with hypokalaemia (2mmol/L) and hyperpigmentation, 11y after surgery of a pT3N1Mx non-functional G1 NET with SRS positive, non-resectable but stable, residual mass encasing mesenteric vessels. Serum cortisol (3261 nmol/L), ACTH (796 ng/L), CgA (530 pmol/L) and urine total cortisol metabolites (33920 μg/24h) including 14 sub-products indicated change of bio...

The function of the thyroid gland is to maintain thyroid hormone (TH) levels in the blood circulation. Thyroid epithelial cells liberate TH from the precursor molecule thyroglobulin (Tg) by the combined proteolytic action of the cathepsin B, K, L, and S. Cathepsin L-deficiency in mice results in impaired processing of Tg and remnants of dead cells in the follicle lumen. Recently, we have shown that Trace amine-associated receptor 1 (Taar1) is localized on the primary cilia of ...

Rab proteins (Rab GTPase) have been implicated in the trafficking and exocytosis of secretary vesicle and play a central role in the secretion of hormones or neurotransmitters. However, the involvement of Rabs and Rab effectors in the regulation of AVP secretion is still unknown. Embryonic stem (ES) cells are pluripotent cells that differentiate into all cell types. Recently, it has been reported that when dissociated ES cells are quickly reaggregeted in low cell-adhesion cult...

Controversy exists as to the role of adrenal venous sampling in the assessment of primary aldosteronism (PA). There is no consensus as to how best to define successful outcome post resection of aldosterone producing adenoma (APA). We performed a retrospective analysis of the outcome of patients following unilateral adrenalectomy without pre-operative venous sampling. The study included 14 patients (9 males; mean age 47 yrs (r: 38–59 yrs) with PA and CT identified u...

Pharmacokinetics and tolerability of a new a bioadhesive buccal testosterone tablet in testosterone deficient men.RJM Ross, A Jabbar, H Jones, B Roberts, K Dunkley, A Long, H Levine, DR CullenObjectives: A phase I single centre, open label study of the pharmacokinetics and tolerability of a buccal testosterone tablet (COL1621). Design: The study was approved by The South Sheffield Ethics Committee. Twelve testosterone deficient males were treated with the buccal tablet...