Endocrine Abstracts

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 ...

Case history: A 45 year old lady with Von Hippel Lindau syndrome with a complex past medical history presented with symptoms of cauda equina compression. Past medical history includes cerebellar hemangioblastomas, bilateral retinal angiomas, right sided renal cell carcinoma and renal carcinoid tumour treated with partial and then completion nephrectomy, bilateral phaeochromocytoma treated with bilateral adrenalectomy, metastatic neuroendocrine tumour treated with Whipple’...

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of ACTH-indepe...

Background: Metformin is widely used for treatment of gestational diabetes mellitus. Metformin is considered safe in pregnancy but crosses the placenta. The limited available data of follow-up of children exposed to metformin in utero suggests potential for increased adiposity but mechanisms are unknown. As placental DNA methylation has been linked to later obesity and metformin causes global DNA methylation changes in cancer cell lines we hypothesised that this may be a candi...

Introduction: Increased cardiovascular risk in hypopituitary patients was first documented by Rosen in 1990. Subsequent studies confirmed increased prevalence of cardiovascular and cerebrovascular disease in these patients. The exact mechanism for this is unclear. There is no clear consensus on how best to quantify or predict cardiac risk in hypopituitarism. QRISK2 cardiovascular disease risk algorithm provides estimates of 10-year cardiovascular disease (CVD) risk in patients...

Introduction: Patients with craniopharyngioma are characterised by a high incidence of hypopituitarism, visual failure and hypothalamic dysfunction. Standardised mortality is markedly elevated and controversy exists about optimal treatment.Aim: We aimed to examine the temporal trends in the treatment of craniopharyngioma at our centre. Also, we sought to examine treatment needs and long-term morbidity in this patient group.Methods:...

A 51 year old woman presented with severe Cushing’s syndrome. In addition to a typically Cushingoid appearance she demonstrated increased cutaneous pigmentation in her face and upper chest. Biochemical investigation confirmed elevated serum cortisol levels with loss of circadian variation, and failure to suppress with low dose dexamethasone (0.5 mg 6 hourly for 48 hours). Serum ACTH levels were undetectable. Cross-sectional imaging revealed bilateral macronodular adrenal ...

Background: The glands most commonly affected in MEN1 are parathyroid, pituitary and pancreas. Pancreatic neuroendocrine tumours (pNETs) are of foregut origin, but a number of other so-called ’foregut carcinoid tumours’ may also occur in MEN1, including tumours of bronchial, thymic, and gastrointestinal origin. Reported rates of prevalence of these latter tumours vary from 2% for thymic and bronchial carcinoids, to 10% for gastric carcinoids. Thymic carcinoids have b...

Introduction: In rodents, dietary choline deficiency (CDD) results in macrovesicular hepatic steatosis and insulin sensitisation whereas methionine and choline deficient (MCDD) diets result in inflammatory fibrotic steatohepatitis with hepatic insulin resistance. The methyl donors choline and methionine are essential components of one-carbon metabolism. Our hypothesis was that methyl donor deficiency in mice would affect the expression of key genes in pathways of hepatic lipid...

Background: Treatment options for Graves’ disease (GD) and multinodular goitre include antithyroid medication, near total thyroidectomy and radioactive iodine (RAI). RAI is an established treatment for GD in the adult population but is used less commonly in children and the adolescent population due to concerns with regards to safety.Methods: A review of a series of 14 adolescent patients receiving RAI between 2007 and 2013 in our department was per...