Endocrine Abstracts

BackgroundThe protean and non-specific nature of diagnostic criteria of Hashimoto’s thyroiditis leads either to overdiagnosis or underdiagnosis. The aim of this study is to propose a comprehensive diagnostic scoring system based on objective clinic-investigative criteria.MethodsA case-control study of patients who underwent surgical thyroidectomy, were compared a with a set of clinical, biochemical, path...

Kidney stone disease (KSD) is a recurrent condition with limited prophylactic therapies. This study aimed to use Mendelian randomisation (MR) and colocalization analyses to identify novel drug targets for KSD. Utilising UK Biobank genome-wide association study data for MR, we identified forty-nine 1Mbp regions where genetic loci increase risk of KSD via effects on albumin-adjusted serum calcium or phosphate concentrations. Multi-trait statistical colocalization analyses identi...

Background: Thyroid cancers represent a diverse group of malignancies characterized by intricate genomic landscapes, necessitating advanced molecular investigations for a comprehensive understanding of their underlying genetic alterations. This study harnesses the power of Whole Exome Next-Generation Sequencing (WES) to unravel pan-exomic mutations in thyroid cancer samples. The primary objectives include correlating genomic changes with clinicopathologic features and unravell...

Objective: Anaplastic Thyroid Cancer (ATC) represents a formidable challenge in oncology due to its aggressive nature and high metastatic potential. This study delves into the quantitative assessment of microRNAs (miRNAs), specifically miRNA-149-5p, miRNA-548c-3p, and miRNA-3619-3p, to elucidate their roles in ATC progression and metastasis. Employing the robust technique of quantitative Reverse Transcription Polymerase Chain Reaction (RT-PCR), we meticulously examine the expr...

Background: Follicular differentiated thyroid cancer (FDTC) is the most common endocrine cancer, globally. Next-generation sequencing (NGS) in thyroid cancer allows for high-throughput genetic sequencing with quick turnover. NGS Studies on papillary thyroid cancer are scanty from South East Asia. In this context, we conducted this study of a genetic panel wide somatic mutations in thyroid cancer.Methods: We selected 21 FDTC cases. All of them underwent t...

Diacylglycerol kinase delta (DGKD) has been implicated in calcium homeostasis and nephrolithiasis by genome-wide association studies. We have previously demonstrated that alterations in expression of DGKD cause biased calcium-sensing receptor (CaSR) signalling in vitro. To further elucidate the physiological role of DGKD we examined the biochemical phenotype of a Dgkd-haploinsufficient (+/-) mutant mouse developed by the International Mouse Phenotyping Consor...

Introduction: The pathogenesis of kidney stone disease (KSD) is poorly understood and has been linked to features of metabolic syndrome (MetS). Using conventional and genetic epidemiological analyses we studied associations of MetS phenotypes with risk of KSD.Methods: Multivariate Cox-proportional hazard models were used to assess association of BMI and waist-hip ratio (WHR) with KSD in 492,380 UK Biobank participants. Causal relationships between WHR, B...

Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH)2D3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH)2D3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presente...

Journal of Endocrinology, 2021, 248(1): 75-86 (DOI: https://doi.org/doi.org/10.1530/JOE-20-0404)...

Heterozygous germline gain-of-function mutations of the extracellular calcium-sensing receptor (CaSR), a G-protein coupled receptor (GPCR), result in autosomal dominant hypocalcaemia type 1 (ADH1), which may cause symptomatic hypocalcaemia with low circulating parathyroid hormone (PTH) concentrations and hypercalciuria. Negative allosteric CaSR modulators, known as calcilytics, rectify the gain-of-function caused by CaSR mutations and are a potential targeted therapy for ADH1....