Endocrine Abstracts

Activating mutations of the calcium sensing receptor (CaSR) result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH), in which patients may also suffer from polyuria, polydipsia, nephrocalcinosis, renal impairment, and ectopic calcification. A mouse model, Nuf, with an activating Leu723Gln CaSR mutation has been reported to develop the features of ADHH as well as cataracts that consist of dot nuclear opacities, which have not been described in ADHH patients...

The G-protein coupled calcium-sensing-receptor (CaSR) regulates calcium homeostasis and inactivating mutations result in familial hypocalciuric hypercalcaemia (FHH), whilst activating mutations result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH). Allosteric CaSR modulators consist of: calcimimetics, which activate the CaSR e.g. Cinacalcet, that is used to treat the hypercalcaemia of chronic renal failure and metastatic parathyroid carcinoma; and calcilytics e...

(This poster is based on OC24)...

Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of tumours of the parathyroids, pancreas and pituitary. The MEN1 gene, which is located on chromosome 11q13 and encodes a 610 amino acid protein (menin), belongs to the class of tumour suppressors. To investigate the role of menin in tumour suppression, three different mouse models have been generated through targeted disruption of the Men1 gene. ...

Inbred laboratory mice are widely used to generate, by homologous recombination, transgenic and chemical mutagenesis routes, genetic models of human disease. However, physiological studies of such models are hampered by the lack of normal ranges for serum and urinary biochemistry, particularly in relation to acclimatisation following placement in metabolic cages. To establish such values, we investigated urinary and serum parameters in forty, 24–30 week-old C3H/HeH, BALB/...

Case history: A 38-year-old woman presented with blepharospasm, cramping of the hands, and paraesthesia primarily affecting the face and hands. Symptoms had been present for 10 years but had been progressive over the previous 12 months. Symptoms were consistent with neuromuscular instability. Hypocalcaemia and elevated Parathyroid hormone (PTH) were confirmed. Past medical history was notable for anorexia nervosa in remission. Family history was non-contributary. Hypocalcaemia...

A 25 year old Afghan male presented with a 4 day history of worsening left-sided loin pain. He had a past history of deafness since birth, speech problems and development delay. Bilateral renal calculi and widespread multiple well defined lytic lesions (likely brown tumours) were seen on CT-KUB. The corrected calcium was 3.21 mmols/l, PTH 80 pmol/l, Vitamin D 25 nmol/l, phosphate 0.49 mmols/l, ALP 960 IU/l and fractional calcium excretion was 0.16. His skull X Ray/OPG, done du...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...

G-protein subunit α-11 (Gα11), which is encoded by GNA11, plays a major role in calcium homeostasis by regulating parathyroid hormone (PTH) secretion, and germline loss-of-function mutations cause familial hypocalciuric hypercalcaemia type 2 (FHH2). Since Gα11 is ubiquitously expressed, we investigated whether FHH2 is associated with additional non-calcitropic phenotypes by analysing mice harbouring a homozygous germline deletion o...