Endocrine Abstracts

Whilst the majority of familial medullary thyroid cancer (MTC) is caused by germline mutations of the RET proto-oncogene, there are families and individuals with predisposition to MTC in whom no RET mutation has been identified (non-RET MTC). Recently, we identified novel mutations in a single gene termed MTC2 in non-RET MTC individuals by whole exome sequencing. The precise role of these MTC2 germline mutations in MTC tumorigenesis is however unclear. Here, we examined the fu...

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

Introduction: It is established practice to localise parathyroid lesions preoperatively using ultrasound (US) and sestaMIBI (MIBI). Whilst these imaging techniques have good sensitivity/specify, there are patients in which imaging does not localise a parathyroid lesion. 11C-Methionine PET (MET PET) is an imaging modality where 11C-methionine, a radioactive tracer, is taken up at sites of protein/peptide synthesis and has been demonstrated to be effective ...

Metastasis is a multistep process responsible for the majority of endocrine cancer deaths. Central to the ability of cells to move is the recruitment of actin fibres at the periphery of the cell by key proteins, especially the cortical actin binding protein cortactin. A full understanding of cortactin function is required in order to address metastatic cell activity within endocrine cancer. We used IP-MS to discover protein binding partners, and now identify the proto-oncogene...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...

Some patients use liothyronine as thyroid replacement therapy as an alternative to L-thyroxine. Trials have examined the potential benefits, but there is little data looking at the relative safety of these two agents. All patients receiving thyroid replacement therapy between 1993 and 2014 in Tayside were included in a cohort study (n=34 355; 319 500 patient years of follow up). Overall 33 955 patients received only L-thyroxine, and 327 r...