Endocrine Abstracts

Objective: Papillary thyroid carcinoma (PTC) is themalignantcancer with altered microRNA (miR) changes. miR149-5p and miR-548c-3p participates in multiple processes of tumor development, progression, tumor suppression. Whereas miR-3619-3p plays role to promote cell migration and invasion in PTC. However, the role of miR149, miR-548c-3p, and miR-3619-3p in PTC and the underlying mechanisms remain undefined. Therefore, the present study is aimed to quantify therelative expressio...

Familial hypocalciuric hypercalcaemia (FHH) comprises three genetic variants: FHH types 1 and 2 are due to mutations of the calcium-sensing receptor (CaSR) and G-protein subunit alpha-11, whereas, FHH type 3 (FHH3) is caused by heterozygous mutations affecting the Arg15 residue (Arg15Cys, Arg15His, Arg15Leu) of the adaptor-related protein complex 2-sigma subunit (AP2S1), which regulates CaSR endocytosis. FHH is usually associated with mild hypercalcaemia, normal parathyroid ho...

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...

Mutations of the calcium-sensing receptor (CaSR), G-protein alpha-11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ) resulting in a loss-of-function, cause familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), respectively. We investigated a family with FHH (four affected and two unaffected members) for CaSR, Gα11 and AP2σ mutations, and identified a heterozygous Gα11 missense mutation, Phe220Ser, which is predicted to disrupt a cluster o...

Autosomal dominant hypocalcaemia type 1 (ADH1) is a systemic disorder of calcium homeostasis caused by gain-of-function mutations of the calcium-sensing receptor (CaSR). ADH1 may lead to symptomatic hypocalcaemia, inappropriately low parathyroid hormone (PTH) concentrations and hypercalciuria. Active vitamin D metabolites are the mainstay of treatment for symptomatic ADH1 patients, however their use predisposes to nephrocalcinosis, nephrolithiasis and renal impairment. Calcily...

The prolactin receptor (PRLR) is a type-I cytokine receptor that plays critical roles in mammary gland development, lactation and glucose metabolism, and PRLR mutations have been associated with breast cancer and familial hyperprolactinaemia. The PRLR signals via Janus kinase-2-signal transducer and activator of transcription-5 (JAK2-STAT5) or phosphoinositide 3-kinase-Akt (PI3K-Akt) pathways to mediate changes in transcription, differentiation and proliferation, and we hypoth...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic and pituitary tumours, and is due to mutations of the MEN1 gene, which encodes menin. We have investigated identical twins with MEN1, one of whom developed primary hyperparathyroidism (PHPT) and a prolactinoma that caused pubertal arrest, and the other had PHPT only. DNA sequence analysis of the MEN1 coding region had not ide...

Pseudohypoparathyroidism (PHP) is due to parathyroid hormone (PTH) resistance that results in hypocalcaemia, hyperphosphataemia and elevated plasma PTH concentrations. Some PHP patients also have Albright’s hereditary dystrophy (AHO), which is characterised by short stature, round faces, dental hypoplasia, brachydactyly, subcutaneous ossifications and reduced mental acuity. The 3 major types of PHP referred to as PHP type 1a (PHP1a), PHP1b and pseudopseudohypoparathyroidi...

Neuroendocrine tumours (NETs) occur in multiple sites including, the pancreas, gastrointestinal tract, lung, thymus, parathyroid, adrenals and pituitary. Current treatments for advanced NETs such as surgery, chemotherapy or radiotherapy, rarely achieve a cure due to metastases at presentation therefore additional therapeutic treatments are required. Identification of cell surface receptors or binding sites that are unique or up-regulated on tumour or neuroendocrine tissue coul...

Introduction: Next-generation sequencing (NGS) in thyroid cancer allows for high-throughput sequencing analysis of various genetic alterations and provides a useful information of tumor biology. NGS Studies on follicular differentiated thyroid cancer have been scanty from Indian subcontinent. In this context, we set out study the prevalence of a genetic panel wide somatic mutations in thyroid cancer.Material and Methods: This prospective study was conduc...