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...

Pheochromocytomas account for increased catecholamine secretion in about 90% of cases. Less than 5% of Less head and neck paragangliomas (PGs) secrete catecholamines. As in all extra-adrenal catecholamine secreting paraganglionomas (CSPs) they produce predominantly norepinephrine and little epinephrine secretion. About 25% of PGs are familial and have mutations involving RET,VHL, SDHB, SDHC or SDHD and other newly described genes.We present two cases of ...

Familial hypocalciuric hypercalcaemia (FHH) is a rare condition and can be mistaken for primary hyperparathyroidism (PHPT). Distinguishing this from the later is vital to avoid un-necessary surgery as this is a benign condition. Ca:Cr excretion ratio >0.01 in a spot urine is widely used to rule out FHH. However this was calculated from 24 h urine samples on the original studies.We present a case of 46-year-old lady who presented with symptomatic hype...

We present a 67 years old male originally from Cyprus who presented with Hypercalcemia. He had renal calculi twice and required Laparoscopic procedure. In his family history his 3 siblings had confirmed raised calcium and PTH and 2 other siblings had renal calculi. One of his brother, had surgery for primary hyperparathyroidism twice but no parathyroid adenoma was found and his calcium remained high. Patients’ calcium was 2.81 mmol/l (2.15–2.50), 25 HVD 82 nmol/l (75...

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...