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...

Von Hippel–Lindau (VHL) disease, attributable to germline mutations in the VHL gene on the short arm of chromosome 3 (3p25-26) is an inherited condition which can give rise to paragangliomas. We present a case of 47 year old gentleman with bilateral pheochromocytomas in the past resulting in both adrenalectomies as a child in the 1980. His routine follow up subsequently picked up elevated urine Normetanephrines at 14.3 µmol/24 h 25 years postoperatively. His CT abdo...

We present a case of a 24 year old lady with known SDHB mutation. She was referred from the genetics clinic in view of a strong family history of premature paraganglioma at the age of 17. On initial clinic assessment she exhibits no symptoms suggestive of paraganglioma or pheochromocytoma. Her blood pressure is normal at 120/75. pulse of 60–80bpm. Physical examination was unremarkable Her Plasma normetanephrine done on two separate occasion were elevated at 1600 pmol/l a...

Giant prolactinomas are rare tumours, accounting for only 2–3% of all prolactin (PRL)-secreting tumours which can pose therapeutic challenges. It has a higher preponderance in men with a male to female ratio of about 9:1. A 70year old gentleman initially presented to the ophthalmology department with blurred and reduced colour vision. He denied any headache, galactorrhoea or gynaecomastia however he noticed reduced libido and difficulties with erections. His past medical ...