Endocrine Abstracts

Background: Accurate diagnosis of an underlying cause of thyrotoxicosis is critical for targeted therapy. Thyroid radionuclide uptake scan is a useful second line investigation in patients who lack TSH receptor antibody. The uptake scan patterns identify patients who can be preferentially treated with anti-thyroid drugs (diffuse pattern - Graves’ disease) or radio-iodine treatment (patchy uptake - multinodular or localised uptake – toxic adenoma) or simple monitoring...

Regulation of hepatic gluconeogenesis by insulin and glucagon is central to blood glucose homeostasis. It has been proposed that the members of AMP-activated protein kinase (AMPK)-related kinases, the salt inducible kinase (SIK) isoforms, may play a role as signalling mediator in the control of insulin- and glucagon-regulated hepatic gluconeogenesis. However, the exact regulation and contribution of SIKs in hepatic gluconeogenesis is largely elusive. Here we employed selective...

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...

Background and aims: Neonatal diabetes diagnosed before 6 months is caused by mutations that reduce. β cell number (reduced formation or increased destruction) or impair β cell function. We investigated the genetic cause of a syndrome characterised by neonatal diabetes, microcephaly and epilepsy.Materials and methods: We performed whole genome sequencing for two unrelated patients with neonatal diabetes, epilepsy and microcephaly. Replication s...

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...