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: MEN2A-causing RET variants are considered highly penetrant, and early prophylactic thyroidectomy is recommended to prevent the development of Medullary thyroid cancer (MTC). However, existing risk estimates may be exaggerated due to their reliance on clinically selected patients, leading to unnecessary surgeries. To address this, we conducted a comprehensive study of 450,000 clinically unselected individuals to evaluate the risk of MTC wit...

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 ...