Endocrine Abstracts

A new role for the endocrine nurse within a multidisciplinary approach to neuro-endocrine tumours.Historically patients with neuroendocrine tumours have been looked after either by the gastrointestinal team, the oncologists or the endocrinologists. Here, we demonstrate the need for a multidisciplinary approach to managing these rare tumours and a new role for the endocrine nurse.Our newly evolved, multi-disciplinary neuroendocrine tumour (NET) clinic comprises an endoc...

In an attempt to audit one aspect of the endocrine nurse's workload, all incoming telephone calls to our office were monitored over a two month period.Details recorded were the call source, the query raised and the time taken by the nurse to respond appropriately. We went on to analyse the information gathered to ascertain areas where improved clinical practice could alleviate the need for further calls.Calls totalled 200 in the ...

In 2006, responding to the Government White Paper, ‘Our future, our inheritance’, a project commenced promoting genetics in mainstream medicine.By 2008, the original project framework has evolved to address logistical constraints, patient preference and cost effectiveness, offering a streamlined service for clients with inherited endocrine disorders. Recognised patient pathways and a dedicated endocrine genetic clinical nurse specialist (EGCNS)...

Medullary thyroid cancer (MTC) is rare and mainly sporadic. About ≤25% of cases are inherited from a Ret protooncogene (RET) mutation. >90% of positive mutations develop MTC, either as familial (FMTC), or as part of MEN2. Early detection and treatment of MTC with total thyroidectomy improves prognosis.In 2006, as part of a project to deliver genetics into mainstream medicine, a multidisciplinary clinic (MDC) comprising a specialist thyroid surg...

Debate surrounds the optimal biochemical assessment in the follow-up of patients withacromegaly, particularly with the introduction of GH receptor antagonists to the treatment algorithm. Consensus statements suggest target values for GH of < 1microgram per litre with normal age and sex matched IGF-1 values. A number of groups have reported on the correlation between IGF-1 and GH levels in small cohorts of acromegalic patients. We retrospectively<p...

Background: The CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) genes are found in close proximity on human chromosome 8 and are highly polymorphic, enabling the definition of two common haplotypes. Haplotype1 includes the -344T and the Intron2 conversion polymorphisms in CYP11B2 and also the -1889T, -1859G polymorphisms in the regulatory region of CYP11B1. We and others have shown that these associate with increased aldosterone pr...

The corticosteroids aldosterone and cortisol are implicated in the aetiology of hypertension. The CYP11B1 and CYP11B2 genes encode 11β-hydroxlylase and aldosterone synthase; polymorphisms across the CYP11B1/B2 locus are associated with increased aldosterone production, inefficient 11β-hydroxlation and hypertension. While polymorphisms located in the promoter region of both genes may alter transcription factor binding, other variants located in th...

PTTG binding factor (PBF) is a poorly characterised 22 kDa protein that is implicated in the aetiology of pituitary and thyroid tumours. Our recent investigations have attempted to discern the function of PBF in vitro. In particular, we reported that PBF can inhibit the activity of the sodium iodide symporter (NIS), which is responsible for iodide uptake into thyroid cells. However, little is known about the precise role of PBF in vivo. We have now generated a mu...

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...

Introduction: The human Pituitary Tumor Transforming Gene (hPTTG) is a phosphorylated proto-oncogene induced in multiple tumour types. hPTTG phosphorylation is mediated by cyclin-dependent kinase 2 (CDC2) and expression is regulated by specificity protein 1 (SP1). In thyroid cancer, hPTTG induces genetic instability and propagates growth through induction of growth factors (GFs).Methods: The interplay between hPTTG phosphorylation, SP1 regulation and GF ...