Endocrine Abstracts

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterised by hypercalcaemia and inappropriately low renal calcium excretion. FHH can be classified into three types: FHH1, caused by calcium-sensing receptor (CaSR) loss-of-function mutations, accounting for >65% of cases; FHH2, due to loss-of-function mutations of the G-protein α11 subunit (Gα11); and FHH3, resulting from loss-of-function mutations in the adap...

Improved therapies for pancreatic and pituitary neuroendocrine tumors (NETs), which may occur in Multiple Endocrine Neoplasia type 1 (MEN1), are needed. We assessed the effects of pasireotide, a somatostatin analogue with high affinity for somatostatin receptors (SSTRs) −1, −2, −3 and −5, in a mouse model of MEN1. Men1+/− mice treated from 12 months of age with 40 μg/g pasireotide (n=71), or phosphate-buffered sal...

Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid, pituitary and pancreatic islet tumours, and is due to mutations of the MEN1 gene, which encodes the tumour suppressor protein menin. MicroRNAs (miRNA) are non-coding single stranded RNAs that post-transcriptionally regulate gene expression. Alterations in miRNA expression, including downregulation of two miRNAs, miR-15a and miR-16-1, have been r...

Background: Thyroid disorders are the commonest endocrine disorder after diabetes in most of the populations worldwide. Though, hypothyroidism is extremely common in children, there is acute scarcity of genetic studies leading to improper screening and treatment protocols in developing countries. The aim of this ambitious study was to screen for NIS, DUOX2 and TPO mutations in south Indian children and adolescent patients with dyshormogenetic goiter (DH) and Hashimoto’s t...

Adaptor protein-2 (AP2) is a heterotetramer of α, β, μ, and σ subunits that is pivotal in clathrin-mediated endocytosis and facilitates internalisation of plasma membrane constituents such as the calcium-sensing receptor (CaSR). AP2 σ subunit (AP2σ) missense mutations (Arg15Cys, Arg15His and Arg15Leu) result in familial hypocalciuric hypercalcaemia type 3 (FHH3) and decrease the sensitivity of CaSR-expressing cells to changes in extracellular calc...

The calcium-sensing receptor (CaSR) is a guanine-nucleotide-binding protein (G-protein)-coupled receptor that has a central role in calcium homeostasis. Loss-of-function mutations of the CaSR result in familial hypocalciuric hypercalcemia type 1 (FHH1) and loss-of-function coding mutations in the CaSR-associated G-protein subunit Gα11 have been reported to cause FHH2 in only two patients to date. The aim of our study was therefore to characterise additional <em...

Autosomal dominant hypocalcaemia (ADH) is a disorder that needs to be distinguished from hypoparathyroidism, as ADH patients are at risk of nephrocalcinosis and renal failure when treated with activated vitamin D preparations. ADH types 1 and 2 are due to gain-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein α 11 (Gα11), respectively. CaSR targeted drugs, known as calcilytics, rectify the gain-of-function associated with ADH1-causing mutatio...

Background: Endocrine system (ES) is unique amongst all organ systems (OS) in human body. ES is a conglomeration of different endocrine organs. So far, the only models of proof o fintegrity within ES are APUD cell concept; HPA axis; HPG axis; biochemical pathways of hormones. But, the flaws in the above models are their presumptive and extrapolative nature. We wanted to test a model that every endocrine disease has collateral effect on other endocrine organs. We took nontoxic ...

Introduction: COVID 19 is now a global pandemic. Diabetes is postulated to be a risk factor for mortality due to COVID –19Methods: We retrospectively evaluated the inpatient medical record data, of patients admitted over last two months in a public hospital in Central India to compare the attributes of mortality in patients without T2DM and with T2DM including their glycemic clinical characteristics. Unpaired t – test and Fisher’s exact...

Introduction: Apart from genetics, autoimmunity has been implicated in pathogenesis of diabetes mellitus (DM). Further the role of vitamin B12 levels in diabetic immunomodulation is controversial. In this context, we set out study the role of Pro– inflammatory cytokines in DM with or without vitamin B 12 deficiency in South Indian population.Material and Methods: This prospective case–control study was conducted on diabetes mellitus patients....