Endocrine Abstracts

Introduction: Around 15–20% of patients suffering from familial isolated pituitary adenoma (FIPA) possess heterozygous germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. AIP carriers are predisposed to pituitary adenomas with a penetrance of approximately 20%. No other tumours have been observed in subjects with AIP mutations, hence the name “isolated”. AIP is acting as a tumour suppressor gene in the p...

Mr DP was referred by palliative care to ophthalmology with anisocoria, diplopia and nystagmus. He was known to have a poorly differentiated carcinoma of the prostate with skeletal metastasis (Gleason score 4+5=9). He was on hormonal therapy and had received radiotherapy to the cervical spine. PSA was normal, at 5.31 μg/l.An MRI scan revealed a 12 mm mass in the left side of the pituitary gland, displacing the stalk to the right and lying close to t...

Clinical case: 24-year-old student nurse referred to the liver unit with a 6-month history of pyrexia, cognitive dysfunction and abnormal liver function tests. ERCP was normal; CT scan suggested multiple liver deposits; histology showed both fatty infiltration and focal cholangitis. Medical history included type 1 diabetes since age 7yrs; an unusual skin rash that spontaneously remitted 4 years previously; recurrent vulval ulceration, variously ascribed to candida and/or excor...