Endocrine Abstracts

Section 1: Case history: A 30 year-old female patient with a background of symptomatic primary hyperparathyroidism diagnosed in 2008 and a history of two failed neck surgeries, was reviewed in clinic complaining of persistent symptoms of hypercalcaemia. Previous pre-operative neck imaging had failed to localise a parathyroid adenoma and the patient had undergone two neck explorations by an experienced ENT surgeon; one which removed thymic tissue and the other which removed a m...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder with a prevalence of 0.86% in Europe. Approximately 10% of cases are hereditary. Syndromic PHPT occurs as part of multiple endocrine neoplasia (MEN)1, MEN4, MEN2A and hyperparathyroidism jaw tumour syndrome. Non-syndromic causes include familial hypocalciuric hypercalcaemia. Establishing the underlying genetic cause allows for targeted, cost effective management. Current guidelines recommend that genetic testing...

Background: 11C-Metomidate (MTO)-PET/CT has recently found utility as an alternative to adrenal vein sampling for lateralisation in primary aldosteronism. MTO binds with high affinity to 11b-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) and can be considered an adrenocortical-specific tracer. We and others have therefore hypothesised that combining MTO-PET/CT with 18F-FDG(FDG)-PET/CT would permit indeterminate adrenal lesions ...

Background: The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function of this enzyme can lead to the development of phaeochromocytoma/paraganglioma (PPGL), gastrointestinal stromal tumour (GIST) and renal cell carcinoma. A germline mutation in one of the four genes (SDH-A/B/C/D) encoding the SDH complex is the most common mechanism of SDH inactivation causing SDH deficiency and is routinely screened for...

Case history: We present a 71 year old man, with a 3 year history of problematic hypertension (BP exceeding 190/100 on treatment), incidentally found to be hypokalaemic (K 1.8 mmol/l) during investigations for leg weakness. He had no clinical features to suggest an endocrinopathy. Investigations at his local centre revealed hypokalaemia dating back over 3 years.Investigations: Biochemistry:Na 142 mmol/l (135–145 mmol/l)<p ...

Primary hyperparathyroidism (PHPTH) is a common endocrine disorder and it is estimated that 10% of cases are hereditary, related to syndromes including; multiple endocrine neoplasia (MEN) type 1, MEN type 4, MEN2A and hereditary hyperparathyroidism jaw tumour syndrome. Further hereditary cases can occur in the absence of syndromic features such as familial hypercalcemia hypocalcuria. Identifying cases of hereditary PHPTH enables a personalised medicine approach. Current guidel...

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia or the development of solitary adenomas of multiple endocrine gland. MEN1 related disease is responsible for death in two thirds of patients with this hereditary condition and the mean age at death is 55 years. This associated mortality necessitates a vigorous surveillance protocol, however all recommendations for radiological surveillance are based on non-pr...

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

Diabetes insipidus is characterised clinically by the inappropriate production of large volumes of dilute urine, even in the presence of clinical dehydration or depravation of water. DI occurs either due to deficiency or insufficiency of arginine vasopressin (AVP) hormone production. The gold standard test remains the water deprivation test. Hereditary DI accounts for <10% of all cases.We present a family with a known heterozygous missense mutation, ...

Case history: An 18 year old male student presented to the dentist with an eight week history of left-sided facial pain and swelling. He was subsequently referred to the maxillofacial team. His only previous medical encounter was for a traumatic right humerus fracture following a roller-skating injury. He took no regular medication. His father died of an unknown malignant process several years previous and family history was otherwise unremarkable. On questioning, the patient ...