Endocrine Abstracts

Cinacalcet is a calcimimetic agent licensed for the treatment of secondary hyperparathyroidism and parathyroid carcinoma. Multiple endocrine neoplasia type 1 (MEN1) patients may benefit considerably from cinacalcet. Affected patients have hyperplasia of multiple parathyroid glands, rather than a single resectable adenoma. Surgical cure requires removal of all parathyroid tissue, which is often unsuccessful, resulting in multiple neck explorations and hypoparathyroidism. Cinaca...

Materials and methods: Paired AbSc and Om AT were collected from patients undergoing elective liposuction surgery (Age; 45±1.72 years; lean BMI; 22.91±0.56 kg/m2; obese BMI; 33.51±1.04 kg/m2; n=23) for gene expression analysis by microarray and real time polymerase chain reaction (PCR). Fasted blood was taken to measure metabolic parameters.Results: Microarray data showed that Om AT had signi...

Glial-cell missing b (GCMB) is a parathyroid-specific gene whose loss results in parathyroid agenesis while haploinsufficiency of GATA3, which belongs to a family (GATA1-6) of dual zinc-finger transcription factors causes the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome. We investigated the possibility that GATA3 regulates GCMB expression. Our bioinformatics analysis revealed 5 putative GATA3 binding sites in the 1.3 kb region upstream of exon 1 of GCMB...

Introduction: 18-hydroxycortisol (18-OHF) is known to be elevated in glucocorticoid remediable aldosteronism but there are few data relating to 18-OHF in the differential diagnosis of primary aldosteronism.Aim: We evaluated the usefulness of lying and standing 18-OHF in patients with primary aldosteronism in differentiating between aldosteronoma, bilateral adrenal hyperplasia (BAH) and normality.Methods: Patients (n=27) with...

Objective: The adipocytokine visfatin, expressed in abdominal adipose tissue (AT) is thought to mimic insulin activity. However, whilst central adiposity is closely related to insulin resistance (IR) and T2DM, visfatins’ role in the development of these conditions remains unclear.Method: We investigated circulating visfatin levels in non-diabetic (ND) and diabetic (T2DM) subjects and in T2DM patients pre- and post- rosiglitazone (RSG) treatment. We ...

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...

Gsα is a ubiquitously expressed G protein α-subunit that couples receptors to adenylyl cyclase and cAMP generation. In patients with Albright hereditary osteodystrophy (AHO), heterozygous Gsα mutations only lead to obesity when present on the maternal allele. Similarly, mice with heterozygous germline Gsα mutations on the maternal allele develop severe obesity and insulin resistance with reduced energy expenditure relative t...

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...