Endocrine Abstracts

Nephrolithiasis is a major clinical and economic health burden. We performed a genome-wide association study in British and Japanese nephrolithiasis populations and identified twenty nephrolithiasis-associated loci, five of which (DGKD, DGKH, WDR72, GPIC1 and BCR) were predicted to influence calcium-sensing receptor (CaSR) signalling. Gain-of-function CaSR-signalling pathway mutations cause enhanced signalling via intracellular calcium ([Ca2+]...

Corticotrophinomas represent >10% of all surgically removed pituitary adenomas, which are the most commonly encountered intracranial neoplasms that are identified in >25% of unselected autopsies and approximately 20% of the population undergoing intracranial imaging. Corticotrophinomas are associated with hypersecretion of adrenocorticotropic hormone (ACTH), which leads to excessive production of glucocorticoids by the adrenal cortex and the resulting hypercortisolemia causes ...

Mutations in cyclin dependent kinase inhibitor 1B (CDKN1B) are associated with multiple endocrine neoplasia type 4 (MEN4), in which patients typically develop parathyroid and anterior pituitary tumours, and occasionally tumours of the pancreas, adrenals, kidneys and reproductive organs. Here, we report a family with a missense mutation of CDKN1B (p.Pro69Leu) that did not have MEN4-associated tumours, but instead had hypomagnesaemia. The proband, presented wit...

Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...

Cushing’s disease (CD) results in chronic exposure to increased levels of cortisol leading to alterations in white matter microarchitecture and adverse effects on cognitive functioning. Diffusion tensor imaging (DTI) is a novel technique used to evaluate the integrity of white matter (WM) architecture. There is little information on DTI changes in CD. We studied WM changes in CD using diffusion tensor imaging and compared with healthy controls. 16 patients with active CD ...

Introduction: Granulomatous thyroiditis (GT) is one of the various types of autoimmune thyroiditis. It usually occurs in women of reproductive age in perigestational period. Clinical picture in is predominantly painful goiter with radiating pain to ears with low grade fever lasting for few days, sometimes associated with mild hyper or hypothyroidism. The treatment is symptomatic and supportive with no curative option. There are meagre anecdotal reports of thyroidectomy role fo...

Introduction: Hashimoto’s thyroiditis (HT) is one of the commonest endocrine disorder. Often, HT is associated with a plethora of autoimmune co-morbidities (AIC) such as vitiligo, arthitides, pernicious anaemia, skin allergy, thrombocytopenia, addison’s disease, type 1 diabetes, celiac disease, eosinophilia etc., The etiology of these AIC in HT is enigmatically idiopathic and hypothesized to be autoimmune in origin. Many studies suggests that thyroid specific antibod...

Introduction: Hashimoto’s thyroiditis (HT) is one of the frequent endocrine disorder. Clinical picture in Hashimoto’s thyroiditis is predominantly due to associated hypothyroidism and/or goiter related neck complaints. Rarely, HT can be associated with recurrent encephalopathy characterized by seizures, amnesia and comatose episodes. The etiology of this Hashimoto’s encephalopathy (HE) is enigmatically idiopathic and hypothesized to be autoimmune in origin. The ...

Background: Obesity has become a worldwide epidemic and carries excess cardiovascular morbidity and mortality. HDL efflux capacity (HEC) was shown to be inversely correlated with cardiovascular risk (CVR), both in the acute and the chronic phases. Our aim was to understand if decreased HEC can serve as a surrogate marker for the increased CVR in this population.Methods: Forty patients: 10 obese diabetic (OD), 10 obese non-diabetic (OND), 10 with stable C...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by occurrence of parathyroid tumours and neuroendocrine tumours (NETs) of the pancreas and pituitary, which is caused by mutations of the MEN1 gene, encoding menin. Mouse models are important in elucidating mechanisms of MEN1 tumourigenesis and treatments, but the current models have limitations. Thus, in conventional heterozygous MEN1 knockout models, tumour d...