Endocrine Abstracts

A 36 year old lady presented to the endocrine clinic with a 4 month history of secondary infertility, amenorrhea, galactorrhoea and headaches. She had stopped breast-feeding her 5th child 18 months previously and was not taking any antidopaminergic drugs. She had a normal neuro-ophthalmic examination, including full visual fields to confrontation with a red pin. Her prolactin was elevated at 5690 mU/l and MRI pituitary confirmed a 17 mm partially cystic macroadenoma which was ...

A 59 year old lady attended endocrinology clinic for her annual review. She had presented at the age of 28 years with symptomatic hypoglycaemia. She was diagnosed with an insulinoma and underwent resection of the tail of the pancreas. She was concurrently found to be hypercalcemic and underwent two gland parathyroidectomy. Genetic testing confirmed a heterozygous frameshift mutation in exon 3 of the MEN1 gene (c.628_631 del.) and a diagnosis of multiple endocrine neoplasia typ...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

Background: Thyroid incidentaloma (TI) is an unsuspected, asymptomatic thyroid lesion discovered on an imaging study performed for unrelated purposes. Reported incidence during 2-(18)(F) fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG-PET/CT) varies from 0.2 to 8.9%, with a quoted thyroid malignancy prevalence of 8-64%.Method: We reviewed all 18F-FDG-PET/CT scans performed in our institution over 52 mon...

A 51 year old female presented with an Adjusted Calcium (Adj Cal) of 1.68mmol/l (Ref: 2.20-2.60 mmol/l), raised PTH 24.2 pmol/l (1.6-6.9 pmol/l) and raised Alkaline phosphatase (ALP). She had a background of type 2 intestinal failure secondary to surgical complications resulting in stoma formation. She reported peri-oral tingling, joint stiffness, cramps and generalised pain over several months which left her requiring the use of a wheelchair for mobilisation. There was proxim...

Background: Hypercalcaemia is common in renal transplant recipients, the majority of whom have PTH-dependent hypercalcaemia due to tertiary hyperparathyroidism. PTH-independent hypercalcaemia is less common and is associated with significant, treatable underlying pathologies. In this study, we aimed to evaluate the prevalence and aetiology of PTH-independent hypercalcaemia in post-renal transplant patients.Method: This was a retrospective, single-centre ...

A 54-year-old female presented to her GP with a 9-year history of poorly controlled hypertension (requiring five drugs) and type 2 diabetes mellitus, associated with central weight gain, low mood and poor wound healing. On examination she had clinical evidence of glucocorticoid excess. Cushing’s syndrome was confirmed on low dose dexamethasone suppression testing (2+0 cortisol 857 nmol/l, 2+48 cortisol 346 nmol/l). Cushing’s day curve demonstrated loss of circadian r...

Background: The melanocortin 2 receptor (MC2R)/melanocortin 2 receptor accessory protein (MRAP) are critical components of the hypothalamo-pituitary-adrenal axis (HPA). MRAP2, homologue of MRAP, can also regulate the MC2R in vitro, however, the physiological significance of this is unclear. We studied the expression of the MRAPs and MC2R in a well-defined rat model of endotoxin induced septic shock. These animals have been shown to have higher ACTH and corticosterone le...

Background and aims: The melanocortin-2-receptor accessory protein (MRAP) is essential for melanocortin-2-receptor (MC2R) function through receptor trafficking and signalling, enabling adrenal glucocorticoid synthesis in response to ACTH stimulation. Disabling mutations of MRAP result in life-threatening glucocorticoid deficiency, known as familial glucocorticoid deficiency type 2. MRAP has a single paralogue in the human genome, MRAP2. In vitro MRAP2 has a similar acti...

Section 1: Case history: A 30-year-old Romanian male presented to A&E with symptomatic hypoglycaemia (point-of-care venous glucose 1.8 mmol/l, laboratory value 2.0). He reported 2 days of intermittent left-sided abdominal pain and frequent food craving. Despite eating, he developed dysarthria, hyperhidrosis, somnolence and asthenia, associated with epigastric pain and vomiting. He was recently diagnosed with hepatitis C, discovered incidentally during investigations for ch...