Endocrine Abstracts

The VHL gene is a tumor suppressor gene located on chromosome 3p25.3. Mutations in this gene prevent production of the VHL protein and as a result, cells grow and divide uncontrollably to form the tumors and cysts. Germline VHL gene mutations predispose to a variety of tumors, most commonly retinal and cerebellar haemangioblastomas, renal cell carcinoma and phaeochromocytoma. Papillary cystadenomas of the epidididymis are seen in 10–26% of men are rarely...

A 27-year-old lady presented with headache, bilateral papilloedema and long standing thyroid enlargement. Her MRI brain showed a cerebellar lesion. She had surgery and histology was consistent with Lhermitte–Duclos, a benign brain tumour. She also had retinal changes. Her fluroscein angiogram and optical coherence tomography showed multiple retinal harmatomas and pigmented retinal epithelium. She had retrosternal thyroid extension and had total thyroidectomy because of tr...

A 66 year old lady with a previous diagnosis of Retinitis Pigmentosa (RP) was referred to our endocrine clinic with excessive sweating and was also noted to have hypertension, thin skin, extensive bruising and central obesity. Her past medical history included a benign thyroid nodule, gastric erosions, osteoporosis, hyperlipidaemia and depression. On examination, blood pressure was 164/86 mmHg and BMI was 30.7 kg/m2 with central obesity. Biochemical testing revealed...

Familial hypocalciuric hypercalcaemia types 1, 2, and 3 (FHH1, FHH2, and FHH3) are caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), G-protein subunit α11 (Gα11) and adaptor protein 2 sigma subunit (AP2σ), respectively; whilst autosomal dominant hypocalcaemia types 1 and 2 (ADH1 and ADH2) are due to gain-of-function mutations of CaSR and Gα11, respectively. We therefore hypothesised that gain-of-function AP2σ mutations may re...