Endocrine Abstracts

Carney complex is a rare autosomal dominant syndrome characterized by multiple pigmented lesions on the mucosae and skin, cardiac myxoma, endocrine and non-endocrine tumours. It is caused by mutations of the PRKAR1A gene on chromosome 17q. We present a 24-year-old gentleman with Carney’s complex PRKAR1A gene positive. He has a strong family history of Carney complex- He also has a sister and 3 half- brothers who were also affected. One of his half-brothers has primary adr...

Case history: A 62-year-old male presented with generalised weakness, decreased oral intake, increased lethargy and polydipsia. He had a background of type 2 diabetes, hypercholesterolemia, and was a heavy smoker. No family history of parathyroid disease, other disorders causing hypercalcaemia or other endocrine tumours.Investigations: Initial blood results showed severe hypercalcaemia adjusted calcium 3.87mmol/l (2.2 - 2.55mmol/l), significantly raised ...

We present a 24 year old gentleman with Multiple endocrine neoplasia type 1 with a truncating mutation in the Menin gene arising denovo. He has a past medical history of optic atrophy, pituitary macroprolactinoma in 2007 with ommaya reservoir in situ, hyperparathyroidism with subsequent parathyroidectomy (3 glands removal) and spinal osteoporosis. He had a laparoscopic pancreatic nodule enucleation for pancreatic tumours (×2 in tail of pancreas) in 2017 with his ...

A 46 years old gentleman was referred by his GP to cardiology with 3 weeks history of bilateral leg swelling and rash associated with breathlessness and palpitations. He has no other past medical history to note. He smokes 20 cigarettes a day and works as a manager in a window installation company. He was started on diuretics and further investigations were arranged by cardiology. His symptoms persisted with worsening of skin rash. He was reviewed by GP again 1 month later. He...

Aims: A study looking at the incidence, presentation, diagnosis, management strategies and outcomes following anti-thyroid drug treatment and radio-iodine therapy in a cohort of patients presenting with hyperthyroidism.Methods: Retrospective longitudinal study of all patients (n=442) who received treatment for a new diagnosis of hyperthyroidism (Grave’s disease (GD), multinodular goitre (MNG), Toxic nodule) in a secondary care outpatient se...

A 71 year old man presented with 6 months history of pain over the nipples, weight loss of ½ stone over the previous month and nausea. Initial investigations carried out by the breast surgeons including ultrasound scan of the breast and testes were normal. He was then referred to the Endocrine department for further investigations. There was no significant past medical history, he was taking over the counter vitamins and ...

A 42 year old male was referred to the endocrine clinic with accelerated hypertension (190/110) and an elevated aldosterone renin ratio (59). CT adrenal scan revealed a 16 mm diameter mass in the posterior limb of the right adrenal gland which was confirmed to be hyperfunctioning through adrenal vein sampling. Laparoscopic adrenalectomy was performed and histology confirmed cortical adenoma of the right adrenal gland consistent with Conn’s syndr...

A 71 year old man presented with 6 months history of pain over the nipples, weight loss of ½ stone over the previous month and nausea. Initial investigations carried out by the breast surgeons including ultrasound scan of the breast and testes were normal. He was then referred to the Endocrine department for further investigations. There was no significant past medical history, he was taking over the counter vitamins and ...

A 42 year old male was referred to the endocrine clinic with accelerated hypertension (190/110) and an elevated aldosterone renin ratio (59). CT adrenal scan revealed a 16 mm diameter mass in the posterior limb of the right adrenal gland which was confirmed to be hyperfunctioning through adrenal vein sampling. Laparoscopic adrenalectomy was performed and histology confirmed cortical adenoma of the right adrenal gland consistent with Conn’s syndr...

A 24 year old gentleman presented following an episode where he became ‘sleepy’ and disorientated whilst driving and had to pull over. He was confused and lethargic and paramedics found blood glucose of 2 mmol/l. He gave a 3-week history of extreme lethargy, nausea, epigastric discomfort, blurring of vision and constant hunger. He denied recent weight changes and had no significant past medical/family history. Biochemical evaluation was as follows; Laboratory glucose...