Endocrine Abstracts

Background: Often parathyroid indicentalomas (PI) in the form macroscopically enlarged single or multiple parathyroid glands are encountered during surgical thyroidectomy. The reported incidence in literature is variable (0.4–4.5%), but we feel its underreported compared to its frequency, as only less than 500 cases were reported thus far. Another enigma about PI is their clinical significance and natural history. In this context, we analysed our own experience and tried ...

A 31 year old female with no prior history of thyroid disease presented to hospital four days after 2nd dose Pfizer vaccination with fever, myalgia, neck discomfort and chest pain; which was relieved by sitting forwards. A small goitre and tachycardia were noted on physical examination. CXR and echocardiogram were normal. ECG revealed sinus tachycardia. Troponin T was elevated (32 ng/l, normal <5). Free T4 was raised (26.6 pmol/l, reference 10-22) with an undetectable TSH ...

Background: Diabetes mellitus (DM) is the commonest endocrinopathy, Worldwide. Amongst the protean complex genetic variations, cubulin gene and megalin gene mutations in diabetes are important in dictating genotype-phenotypic correlations and natural clinical course of diabetes. The genetic studies in this area are especially very sparse from Indian sub-continent. In this context, we analyzed the prevalence of cubulin (CBN) and megalin (LRP2) gene mutations, as part of NGS (Ne...

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 in short time. This analysis offers useful information on tumor biology. NGS Studies on follicular differentiated thyroid cancer are scanty from South East Asia. In this context, we set out study the pattern of a genetic panel wide somatic mutations in thyroid cancer.<p cl...

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: Hyperinsulinism–hyperammonaemia (HI/HA) syndrome is caused by gain of function mutations in the GLUD1 gene. Patients present with recurrent hyperinsulinaemic hypoglycaemia (HH) together with asymptomatic, persistent elevation of plasma ammonia levels. Leucine sensitivity is an important feature of this condition.Objectives: The aim of this study was to understand the genotype phenotype correlations in patients with HH due to GLUD1 mutati...

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...

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...