Endocrine Abstracts

A 49 year old Russian lady was found to have an elevated testosterone level (9 nmol/l) when investigated for hair loss. This was first detected some years ago when she apparently was given a provisional diagnosis of polycystic ovarian syndrome. When assessed in her local endocrine unit she did not report any excessive body hair growth or symptoms of virilisation. She claimed to reach the menopause aged 45 years and reported a family history of early menopause. Initial blood te...

Case history: An 18-year old lady being investigated for anaemia, was incidentally found to have a 15 cm left adrenal mass. History taking revealed a 6-month history of weight gain, fatigue, and hirsutism. Past medical history was positive for mental illness. There was no learning disability or history of epilepsy. Physical examination was unremarkable.Investigations: Biochemical work-up for a functional adenoma revealed normal serum cortisol and circadi...

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 36 year-old man was referred to our department for further evaluation of a large adrenal and multiple liver mass lesions. These had been found on an abdominal ultrasound requested for a 3 week history of mild, episodic abdominal pain. He was asymptomatic but described mild night sweats for over 10 years.Investigations, results and treatment: Hyperparathyroidism was evident, with a serum corrected calcium 3.04 mmol/l (2.15–2.65), PTH ...

A 35 year-old lady presented to her local hospital with a 3 year history of fatigue, weight gain, recurrent tonsillitis and oligomenorrhoea. Examination revealed facial plethora, round facies and thin skin on the dorsum of the hand. She appeared tanned, with evidence of spontaneous bruising and difficulty standing up from a chair unaided. No striae were present. Blood pressure was 152/91 mmHg. Investigations revealed a 0900 h cortisol of 632 nmol/l (ACTH 59 ng/l) and an elevat...

Background: Succinate dehydrogenase B (SDHB) associated disease has been characterised by the presence of extra-adrenal paragangliomas with a high rate of metastatic transformation. There is currently no consensus as to the appropriate surveillance regimes for these subjects. We present the surveillance data from a single UK institution with an SDHB surveillance regime which includes annual MR imaging of the abdomen, biennial imaging of the neck, thorax and pelvis and annual u...

Introduction: Primary aldosteronism (PA) is both the most common form of secondary hypertension and a high-risk subset associated with increased cardiovascular, cerebrovascular and renal morbidity compared to essential hypertension. Unilateral PA is amenable to surgery, biochemical cure and reversal of this excess risk; whilst bilateral disease is best treated through mechanism-directed medical therapy. Currently, PA subtype classification relies on adrenal venous sampling (AV...

Introduction: Patients with the familial cancer syndrome von Hippel–Lindau disease (VHL) are enrolled in radiological screening programmes which aim to identify tumour development at an early stage. This facilitates timely intervention to lesions when the risk of metastatic spread is low and when they are conducive to less-invasive and parenchymal-sparing interventions, thereby minimising treatment-related morbidity. A number of international screening protocols exist, al...

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...