Endocrine Abstracts

Case: A 35 year old lady was found to be hypertensive following a blood pressure check in view of her oral contraceptive pill use. Because of her young age she was referred to the Hypertension Clinic. She underwent a renal ultrasound as part of the screening for end organ damage in view of her drug-resistant hypertension. The ultrasound- and subsequent CT imaging- revealed a 2.8 cm left adrenal mass measuring 44 Hounsfield Units. She denied any palpitations or headaches but di...

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: Von Hippel–Lindau disease (VHL) was confirmed in this 36 year old gentleman when he was 13. His father’s diagnosis of metastatic renal cell carcinoma (RCC) and paragangliomas prompted genetic testing and revealed mutation c.499C>T p. (Arg167Trp) which is associated with type 2B VHL in this patient and his sister. Shortly after diagnosis, bilateral phaeochromocytomas were resected with a bilateral adrenalectomy. At age 17, the patient developed tinni...

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...

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’...