Endocrine Abstracts

Case history: A 26 year-old lady was admitted from clinic with severe hypertension and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a massive right upper quadrant lesion that was felt to be of hepatic origin. Histological analysis of the lesion revealed it to be an adrenal phaeochromocytoma and she was thus referred to the endocrine service. Pre-operative biochemical assessment had not been performed but there was no evidence of any blood...

Case history: A 17 year old previously healthy male presented to his local emergency department with a generalised tonic seizure associated with severe hypertension (systolic blood pressure 240 mmHg) and tachycardia. He was intubated and admitted to the Intensive Care Unit. Antimicrobials to cover meningoencephalitis were commenced and his hypertension was managed with intravenous labetalol. He was extubated the following day. He had experienced headaches on a monthly basis fo...

Case history: We present the case of a 72-year-old female who was referred to the endocrinology service following the identification of a pathogenic germline mutation in the SDHA gene (c.91C>T, p.Arg32*) as part of a genetic panel for hypertrophic cardiomyopathy. There was no personal or family history of phaeochromocytoma or paraganglioma (PPGL), gastrointestinal stromal tumours or pituitary adenoma.Investigations: Our patient was reviewed ...

Introduction: The investigation and management of large adrenal lesions varies widely. It is appropriate to have a low threshold for surgical removal of large adrenal lesions with the possible exception of stable adrenomyelipomata. 18F-FDG PET is increasingly used as an imaging technique to assess these lesions. We would like to highlight the potential benefits and pitfalls of using 18F-FDG PET as part of the diagnostic pathway.Method: Since 2008, 18F-FD...

Cinacalcet is a calcimimetic agent licensed for the treatment of secondary hyperparathyroidism and parathyroid carcinoma. Multiple endocrine neoplasia type 1 (MEN1) patients may benefit considerably from cinacalcet. Affected patients have hyperplasia of multiple parathyroid glands, rather than a single resectable adenoma. Surgical cure requires removal of all parathyroid tissue, which is often unsuccessful, resulting in multiple neck explorations and hypoparathyroidism. Cinaca...

A 24-year-old girl was referred with a massive thyroglossal duct cyst (TGDC) and an intra-cystic papillary thyroid cancer (PTC). The impressive clinical photographs, striking radiological images and histology slides are presented.She presented eight and half months post partum with a 10 cm midline neck lump of 4 years duration. She was asymptomatic and was on levothyroxine for Hashimoto’s thyroiditis.Clinically, there was a cy...

Background: Plasma normetanephrine levels are an annual screening tool for detecting paragangliomas in SDHB mutation carriers. Sensitivity is increased when patients are fasting and recumbent prior to phlebotomy, to allow use of age-adjusted reference ranges rather than the 1180 pmol/l upper limit for ambulatory patients of any age. We present our clinic’s results of samples taken after 30 minutes of recumbency to determine if applying age-adjusted ranges...

Mutations in each of the 4 subunits of succinate dehydrogenase (SDH) – SDHA, B, C and D predispose to development of phaeochromocytomas and paragangliomas. Loss of SDH function leads to accumulation of succinate which acts as an oncometabolite to drive tumourigenesis. However, mutations in SDHB have an increased likelihood of causing metastatic disease, compared to mutations in the other SDH subunits. The reasons behind this increased risk remai...

Section 1: Case history: A sixty-three-year-old Caucasian male presented with a six-week history of lethargy, emotional lability, polydipsia, polyuria, increased appetite and weight gain. He also reported changes in his facial features and widening of the gaps between his teeth. He has a background of hypertension, obstructive sleep apnoea and benign prostatic hyperplasia. On examination, the patient appeared plethoric, had coarsened facial features, mild prognathism and evide...

Case history: A 26 year-old lady was admitted directly from the endocrine clinic with severe hypertension (BP 180/130 mmHg) and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a 24 cm right upper quadrant lesion that was pre-operatively felt to be of hepatic origin. She was normotensive pre-operatively. Histology confirmed this to be an adrenal phaeochromocytoma with deficient SDH immunostaining. Pre-operative biochemical assessment had not ...