Endocrine Abstracts

Introduction: Ectopic Cushing’s syndrome (ECS) accounts for approximately 10% cases of Cushing’s syndrome. Its recognition may be delayed and its diagnosis and treatment remain challenging.Aim: To analyze the clinical, biochemical, radiological features, as well as the outcome of patients with ECS presenting in a tertiary referral centre.Material and methods: The records of patients with ECS followed presenting in our Dep...

Case: A 46-year-old woman presented to the gynaecology department with secondary amenorrhoea, hirsutism and acne. At the age of 25, she was diagnosed with Von Hippel–Lindau disease (VHLD) on the basis of multiple right retinal haemangioblastomas. Investigation revealed an elevated testosterone 13.4 nmol/l (0.3–2.6 nmol/l), 17 hydroxyprogesterone 18 nmol/l and free androgen index 53.6 (0.0–7.5). A solid lesion in the left ovary was demonstrated on ultrasound scan...

Background: Minimally invasive parathyroidectomy (MIP) is usually performed with the concurrent use of intraoperative adjuncts for good outcome.Objective: We wanted to show that a good success rate can be achieved in MIP without routine use of any intraoperative adjuncts.Methods: A prospective case series of the first 100 patients who underwent MIP for primary hyperparathyroidism by a single surgeon at a single institution were inc...

Background: Hyponatraemia is the commonest electrolyte abnormality in clinical practice, and may be a biochemical manifestation of different diseases including malignancy. Uterine neuroendocrine tumours causing hyponatraemia are rare and can cause a diagnostic challenge.We present a case of 68 years widow who presented with 3 weeks history of nausea, occasional vomiting, confusion, increased urinary frequency, urinary incontinence, chronic constipation, ...

Blood-borne bacteria, fungi and viral agents can activate cells of the innate immune system by interacting with pattern-recognition or Toll receptors on the surface of immune cells. We demonstrate here that mRNA for Toll receptors is ubiquitously expressed in a range of transformed and normal cell types. These findings raise the possibility that infection could induce an inflammatory response in somatic tissues and this might i), provide a milieu for changes in normal cells th...

Introduction: Neuroendocrine tumors of GI tract are a heterogeneous group of rare neoplasms that secrete peptides and amines. These tumors are highly vascular and their vascularity reflects increased tumour related angiogenesis. Adenosine, a major regulator of angiogenesis, is released by enhanced degradation of ATP, during cellular stress, damage and hypoxia.Material and methods: The expression of adenosine receptors (AR) was investigated in two human n...

Background: Phaeochromocytomas (PHAEO) and paragangliomas (PGGL) are rare neuroendocrine tumours. The traditional ‘10%’ teaching mnemonic has recently been challenged.Methods: Clinical and biochemical/pathological data were collected prospectively. A 24-h urine sample for metanephrine assay was used for postoperative biochemical follow-up.Results: Between ‘Jan 89 and June 10’ 110 patients were operated for PHAEO...

Case: A 35-year-old man was referred by the haematologists. He had been previously diagnosed with dilated cardiomyopathy and later underwent a cardiac transplant. Following this, he suffered an anterior wall myocardial infarction with subsequent congestive cardiac failure. A coronary angiogram did not reveal any evidence of allograft coronary artery disease. His medications included diuretics, immunosuppressants and warfarin. There was no significant family history. Clinical e...

The measurement of plasma renin activity is required in a number of clinical situations, in particular screening for primary aldosteronism (PA) and monitoring mineralocorticoid replacement therapy. PA is a treatable cause of hypertension and has an estimated prevalence of up to 20% amongst resistant hypertensives. Consequently, recent guidelines now recommend screening for PA in all patients groups with a high prevalence of PA. At present, the most reliable method of screening...

Introduction: Advances in the understanding of the natural history and genetics of phaechromocytomas and paragangliomas have altered the demographics of these conditions resulting in much higher rates of malignancy and association with known genetic abnormalities.Objective: To analyse the clinical and biochemical features of hereditary (H) and sporadic (S) phaeochromocytomas and paragangliomas.Design: Retrospective case-series at G...

A 64-year-old man (HM) was admitted to our local hospital with transient dysarthria and right hemiparesis; formal blood glucose was 2.2 mmol/l on admission. During his in-patient stay, he had frequent episodes of hypoglycaemia. Further questioning revealed a 4 week history of recurring dizzy spells which improved on eating.Cerebral imaging and adrenal function were normal and so the patient underwent further investigations (summarised below) which confir...

Small cell lung cancer (SCLC) is highly aggressive with a particularly poor prognosis. This is due to tumours quickly metastasising and developing chemoresistance. SCLC tumours possess neuroendocrine properties in that they secrete prohormones such as pro-opiomelanocortin (POMC) and pro-gastrin releasing peptide (pro-GRP). These can be detected in the circulation and therefore have potential as biomarkers for prognosis and relapse. The aims of this study are; i) develop a mode...

Background: Adrenal incidental masses (incidentalomas) are present in up to 10% of patients. The majority of these adrenal masses are clinically inapparent, but may be functionally active in a significant proportion; thus assessment by endocrinologists is essential.We assessed the functionality of adrenal incidentalomas referred to the endocrinology team at the Queen Elizabeth Hospital in Gateshead.Methods: Patients with adrenal in...

Background: Primary hyperaldosteronism is allegedly present in 10% of hypertensive patients. Conn’s syndrome is present in a third of such patients and adrenalectomy has the potential to cure/improve the control of hypertension. This study assesses the benefits/costs of laparoscopic adrenalectomy (LA) in a cohort of consecutive patients with Conn’s syndrome operated in a tertiary referral centre.Methods: Clinical, radiological, operative and pa...

Background: Routine measurements of serum calcitonin levels are considered an integral part of the diagnostic evaluation of medullary thyroid cancer (MTC). We report a rare case of calcitonin and carcinoembryonic antigen (CEA) negative MTC.Case presentation: A 63-year-old retired plasterer attending a well mans clinic was referred to the endocrinology service with elevated calcium (2.75 mmol/dl). Systemic examination was unremarkable and there was no end...

Introduction: Successful treatment for childhood-onset Hodgkin lymphoma (HL) has highlighted long-term effects of therapy. We review endocrinopathy in HL survivors attending a hospital follow-up clinic and consider, together with published data, appropriate disease screening and monitoring.Method: Retrospective review of notes and investigations from survivors of childhood HL ≥5 years from diagnosis.Results: Forty-four subjec...

Parathyroid carcinoma is an uncommon cause of PTH-mediated hypercalcaemia, accounting for 0.5–5% of patients with primary hyperparathyroidism. We describe a case of parathyroid carcinoma where the usual pre-operative features of this condition were absent, and hence diagnosed on histopathology.A 72-year-old woman was referred to endocrinology with incidentally noted hypercalcaemia. Past medical history included hypothyroidism and essential hypertens...

Background: We describe a 64-year-old lady with past medical history of Thalassaemia Trait and Hypertension, who was presented with Cushing’s syndrome.Clinical presentation: This patient was admitted with severe bi-basal pneumonia in February 2010 and treated successfully. But unfortunately her symptoms persisted with increasing facial swelling in end of May 2010, therefore, a staging CT was arranged and found incidental 6×5 cm left adrenal mas...

Background: Adrenal incidentalomas are becoming increasingly common due to the improvements in imaging techniques, increasing numbers of radiological investigations and an aging population. The current follow-up protocols are designed to avoid missing clinically relevant lesions (e.g. malignancy or hormone hypersecretion) by recommending repeated radiological and biochemical investigations. Large amounts of money are spent on patients who as it seems mostly have benign and non...

Background: Up to a third of subjects who develop a phaeochromocytoma or a paraganglioma will do so as the result of mutations in one of several familial genes. Identifying a causative mutation may have significant implications for family screening and future disease surveillance.Objective: To review the frequency and type of genetic testing undertaken in subjects presenting to our unit over a 20-year period who have developed a phaeochromocytoma and/or ...

Aims: Prior to 2007, there was no agreed guideline at our hospital for the management of adrenal incidentalomas and referrals to our endocrine service were rare. Following evidence-based guidelines, we have developed a local protocol for the assessment of adrenal incidentalomas. We now report clinical outcomes of adrenal incidentaloma patients referred to our endocrine service since its implementation.Methods: Using a retrospective analysis we collected ...

Case 1: A 43-year-old man presented with two day history of sudden onset of headache and vomiting associated with diplopia and declining vision in the left eye for a few months. On admission he had a high grade fever. Neurological examination was unremarkable except for left sided blindness and blurred vision in right eye.Initial investigations revealed CRP of 181. CT head reported no haemorrhage or infarct. CSF analysis: WCC 24 (polymorphs 60% lymphocyt...

A 60-year-old man underwent investigations for weight loss and abdominal pain. A CT thorax/abdomen revealed a 2 cm right adrenal nodule, 3 nodules in the left adrenal all <1.4 cm and a 5 mm lung nodule in the right middle lobe. The single phase CT was unable to characterize the adrenal lesions. MRI adrenal showed solid mixed signal pattern in the nodules with signal drop off in opposed phase series consistent with adenomata. Twenty-four hour urine catecholamines, cortisol,...

SB, a 54-year-old male, was diagnosed with NF1 aged 11 on the basis of multiple café au lait spots and neurofibromas. In 1991 he presented with diarrhoea and weightloss and investigations revealed a duodenal mass and suspected hepatic metastases. Somatostatin levels were elevated, and histology confirmed a duodenal somatostatinma following Whipple’s procedure in 1991. The hepatic metastases were excised with good results. At follow up, SB remained symptom free treate...

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

Introduction: CT renal tract is commonly requested by the urologists for suspected renal colic as it is recognized as the most accurate technique for the detection of ureteric stones. However, follow-up of adrenal incidentalomas identified on such scans could pose a challenge for the non-endocrinologist. We investigated the prevalence and follow-up of incidentally discovered adrenal masses after CT renal colic.Methods: We looked through the reports of al...

We describe the case of two patients who presented with non-mechanical bowel obstruction as a consequence of an underlying, undiagnosed Phaeochromocytoma. The first patient was referred in to the surgical team by his GP with signs and symptoms of small bowel obstruction. He described abdominal pain, distension and vomiting and had not opened his bowels for a week. The X-ray supported the clinical diagnosis and he went on to have an abdominal CT scan. The scan did not identify ...

PTTG is a multifunctional proto-oncogene overexpressed in thyroid cancers, which binds to p53 and modulates its function. PBF, a binding partner of PTTG, is also overexpressed in thyroid cancer and can transform cells independently of PTTG. Moreover, subcutaneous expression of PBF elicits large tumours in nude mice. Given the established role of ionising radiation in thyroid tumourigenesis, we investigated the relationship between PBF and the tumour suppressor protein p53. PBF...

Multiple endocrine neoplasia 1 (MEN-1) is an inherited autosomal dominant tumour syndrome affecting mainly the parathyroid gland, pituitary and pancreas. Genetic defect appears to be deletion mutation of MEN1 gene coding for tumour suppression. We describe a case of MEN1 mosaic mutation never reported in the literature.The index case presented aged 52 in 1985 with headaches and dizziness when hypercalcemia of 3.2 mmol/l was noted. Past medical history in...

A 33-year-old lady was referred to the endocrinology clinic with weight gain, hirsuitism and amenorrhea. She had been diagnosed with hypertension a year ago which was difficult to control despite being on three anti-hypertensive agents – Ramipril, Amlodipine and Bendroflumethazide. Past medical history included hypothyroidism secondary to radioactive-iodine therapy for Graves disease aged 22. Her GP organised an ultrasound scan querying polycystic ovaries but this reveale...

Iodide uptake via the sodium iodide symporter (NIS) is reduced in many thyroid cancers, resulting in poor prognosis following treatment with 131I. The pituitary tumor transforming gene (PTTG) and its binding factor (PBF) are proto-oncogenes implicated in thyroid tumourigenesis and we previously demonstrated PTTG and PBF-induced repression of NIS in vitro. We have recently generated murine transgenic models of targeted overexpression of PBF and PTTG in the thy...

Introduction: Phaeochromocytoma of the urinary bladder is a rare neoplasm and accounts for <1% of all phaeochromocytomas. It is more common in females and the majority of patients present in second and fourth decade. Its common presentation is painless haematuria, headache, palpitation, hypertension and syncope during or immediately after urination.Case history: We present a case of 48-year-old man who presented to Endocrinology with a few months his...

A 62-year-old man was referred from secondary care with a long history of recurrent ureteric colic, borderline hypercalcaemia with parathyroid hormone level in the low-normal range and a normal serum phosphate. There was no family history of kidney stones or osteoporosis and no history of childhood urinary infections.Repeated biochemistry at presentation was as follows: PTH 2.1 pmol/l (1.1–6.8), corrected calcium 2.56 mmol/l (2.15–2.55), phosph...

Although insulinoma commonly presents as fasting hypoglycaemia it can rarely present as post prandial hypoglycaemia and even less rarely in association with Type 2 Diabetes Mellitus (T2DM). We describe a case of insulinoma presenting as post-prandial hypoglycaemia and T2DM.A 60 year old man presented with a 6 year history of episodes of double vision and loss of concentration occurring post-prandially. His symptoms were associated with capillary blood gl...

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pulmonary pathology which encompasses a spectrum of findings ranging from simple neuroendocrine cell proliferation to discrete nodules, and is strongly associated with carcinoid tumours. Patients, typically female, are often asymptomatic, but may present with overt pulmonary symptoms, such a dyspnoea, cough or pleuritic chest pain; however, even in their absence, a degree of obstructive or mixed o...

Background: Chromaffin cell tumours are rare but potentially curable endocrine tumours. These tumours may be sporadic or familial in nature. Biochemical tests are normally performed initially, followed by radiological investigation.Aim: To assess the correlation of biochemical and radiological investigations with histologically proven chromaffin-cell tumours in patients with sporadic and familial disease.Methods: We retrospectively...