Endocrine Abstracts

A 35 year old lady presented to endocrine services with a background of attempted conception and oligomenorrhoea. Presenting features were typical of acromegaly including sweating, acne and median nerve entrapment. Growth hormone day curve showed unrelenting high levels of growth hormone. Serum IGF-1 was elevated at 154 nmol/l (normal 14.2–36.9). Other pituitary blood tests were within normal limits. A pituitary macroadenoma measuring 1.5×1.5×1.3 cm was found on...

A 41 year old man was referred to the endocrine service at St Barts hospital. He had previously had a GP check-up and was found to be hypertensive, this led to him having an ultrasound KUB, an abnormality was detected which resulted in a CT abdomen being performed. The CT abdomen showed a 38×33 mm well defined right adrenal lesion and the patient was referred to endocrinology. Upon review, the patient had been having palpitations for the past year - particularly when stra...

A 31-year-old Caucasian male with chronic fatigue syndrome and additional symptoms of abdominal pain and diarrhoea, was referred by his neuro-gastroenterologist for investigation of possible carcinoid tumour after finding a raised 24 h urinary 5HIAA level – 220 μmol/24 h (normal range <50 μmol/24 h).Full blood count, urea and electrolytes, liver function tests, plasma and urinary catecholamines were all within normal range.<p class...

A 22 year old man was referred to the endocrine unit at St Barts following an abnormal visual field test with his optician and subsequently with ophthalmology at Moorfields eye hospital. At presentation he was noted to be very tall (194 cm), with facial features of growth hormone excess. Despite starting puberty at the age of 12–13 he had experienced continued vertical growth - he was the tallest in his family and his parents had commented that he was continuing to grow, ...

A 29 year old lady presented to an outside hospital with 1 year’s history of episodes of confusion in the mornings. The patient’s partner had noticed that 2–3 times a week she awoke with episodes of confusion, minimal communication, stereotyped lip smacking and winking lasting up to 20 min. She had one nocturnal tonic-clonic seizure abroad, requiring A+E attendance. She was then seen by a neurologist, had a normal sleep deprived EEG and was diagnosed with focal ...

A 29y female presented with an 8y history of hypomagnesaemia. It was noted incidentally when hospitalised with mumps-related pancreatitis. Subsequently symptomatic hypomagnesaemia, with headaches and lethargy, was treated with magnesium glycerol phosphate 4 mg TDS, but she remained symptomatic with occasional need of IV Mg2+. It was thought that she was poorly compliant with her oral Mg2+ supplements. At presentation to our department for follow-up of her...

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: Heterozygous germline AIP mutations can lead to young-onset invasive GH-secreting adenomas. There are no data available to explain the proliferative and invasive nature of AIP-mutation positive somatotrophinomas.Methods: Cell viability (MTS assay), invasion (single cell fluorescence invasion assay) and migration assays (Boyden chambers) were used to further characterise the phenotype of AIP-silenced GH3 cells. Affymetrix gen...

: AIP mutation-positive familial isolated pituitary adenoma is commonly diagnosed in young patients who have a poor prognosis due to large, treatment-resistant tumours. Microarray analysis carried out on AIP knockdown pituitary (GH3) cells and control cells, identified CDC42 as one of the genes that was up-regulated by loss of AIP protein. This small Rho GTPase activates MAPK signalling, suggesting it may contribute to the proliferative phenotype of AIP knock...

Tumour localisation in Cushing’s disease (CD) can be challenging; most are microadenomas and 50% are <5 mm in diameter. They are, therefore, often difficult to detect by conventional MRI. Volumetric MRI (3D-SGE, spoiled-gradient echo 3D sequence) is a high spatial resolution scanning technique which uses very thin slices (1 mm). Theoretically, this increases the probability of finding small pituitary lesions when compared to conventional (spin-echo, SE) MRI techniques...