Endocrine Abstracts

We report a 44 year old lady with a history of weight loss, anxiety and ‘prominent eyes’. She was clinically and biochemically thyrotoxic (FT4: 158.1 pmol/L [12–22], FT3:56.5 pmol/L [2.8–7.], TSH:<0.08 mU/L [0.30–4.30]). She was commenced on carbimazole and propranolol. Failure to attend regular clinic appointments or comply with drug therapy over the next few years resulted in huge swings of her thyroid status from severe thyrotoxicosis to profoun...

Riedel thyroiditis, an uncommon form of chronic thyroiditis in which the thyroid gland is replaced by fibrous tissue, is difficult to differentiate from the fibrous variant of Hashimoto thyroiditis or lymphoma. We report a patient illustrating this. A 54 year old lady with a long standing goitre and 3 year history of stable hypothyroidism was referred for progressive thyroid gland enlargement over several months, dysphagia and an increasing thyroxine requirement. Clinically, s...

In a retrospective cohort study, we reviewed the medical notes of patients with severe hyponatreaemia admitted to acute medical unit at Blackpool Hospital between January and March 2012. We assessed the severity, causes of hyponatraemia, length of stay and mortality in patients with hyponatraemia.We identified 25 patients with plasma sodium ≤120 mmol/l, 5 of whom were admitted twice during the study period. Their average age was 70 (range 30–9...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...

Introduction: Germline and somatic inactivating MEN1 variants are associated with a wide range of inherited and sporadic endocrine tumours. MEN1 encodes the tumour suppressor Menin, a ubiquitously expressed scaffold protein, implicated in multiple cellular processes including transcription, epigenetic regulation, and modulation of key signaling pathways. Despite intensive study, the mechanisms leading to endocrine tumorigenesis remain ill-defined, in part ref...

Hypomagnesaemia usually occurs secondary to decreased intestinal absorption or excessive renal excretion. There have been a few reports recently suggesting an association between PPIs and hypomagnesaemia.A 65-year-old lady was referred to the endocrine clinic for investigation of hypomagnesaemia found on routine testing. Serum magnesium was 0.27 mmol/l (normal 0.7–1.0), with corrected serum calcium of 2.0 mmol/l (2.12–2.63), and normal PTH and ...

Introduction: To assess outcome for patients with acromegaly treated at Royal Preston Hospital since 1st of January 2000.Results: Out of 22 patients (12 presenting in the last 2 years) 20 had endoscopic transsphenoidal hypophysectomy and two were managed medically. Headaches, visual disturbance and characteristic morphological features were the main presenting problems. 4 were microadenomas and 18 macroadenomas\. Exact dimensions were only available in 1...

31 years old female presented to casualty with acute abdominal pain and vomiting. The physical findings showed acutely unwell female with persistent regular tachycardia and a large goitre with a bruit. There were no demonstrable eye signs indicating Grave’s disease. Initial investigation showed profound high anion gap metabolic acidosis (PH-7.13,HCO3-5.1, CL-113.6 BE-22.1PCO2 2.69,PO2-12.5) and severe hyperthyroidism (FT4-44 picomol per litre,FT3-24.8 picomol per litre,TS...

Background: Thyroid eye disease (TED) affects 25% of patients with Graves’ disease (GD). GD affects nearly 1% of pregnancies. However, data on TED incidence, course, management and outcome in pregnancy are limited.Aims: To describe the prevalence, course and outcomes of TED in pregnant females.Methods: A retrospective analysis of electronic health records was conducted in a sp...