Endocrine Abstracts

Introduction: Genetic predisposition with environmental factors plays a significant role in the development of type 2 diabetes mellitus. Among the diabetogenic genes, the transcription factor 7-like 2 (TCF7L2), a member of the Wnt signalling pathway remains the strongest genetic determinant of type 2 diabetes risk in humans. Our aim was to investigate whether TCF7L2 variants that have previously been associated with type2 diabetes would also confer risk for gestational diabete...

Background: The H-syndrome is a recently described very rare monogenic systemic autoinflammatory autosomal-recessive genodermatosis with young onset of diabetes without evidence of autoimmunity. It is caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.Objectives: To study the clinical features and confirm the genetic diagnosis in a subject with young onset of diabetes.Subject and m...

Phaeochromocytoma (PCC) and paragangliomas (PGL) are neuroendocrine tumours derived from the embryonic neural crest, located either within the adrenal gland or at extra-adrenal sites.Objective: To study the clinical, biochemical, imaging characteristics, and mutational profile of patients with PCC/PGL treated at our institution.Methods: We collected data of patients with PCC/PGLs managed at Christian Medical College, Vellore, India...

Objective: We report the rare case of a 45-year-old male with multiple endocrine neoplasm 1 (MEN1) with simultaneous occurrence characteristic tumours leading to a delicately balanced metabolic homeostasis.Methods: Clinical, biochemical, and radiological data of this patient diagnosed to have MEN1 were analysed and the challenges in the management of these neuroendocrine tumours are discussed.Case illustration: A 45-year-old gentle...

Background: Intensive glycemic control forms the benchmark of management of type 1 diabetes mellitus (T1DM) and is limited by the risk of hypoglycaemia. Repeated episodes of hypoglycaemia can lead to development of hypoglycaemia unawareness and a sixfold increase in deaths in those experiencing severe hypoglycaemia. Severe hypoglycaemia occurs in 35–42% patients with T1DM. However, there is lack of data from our population and hence we aimed to objectively estimate the pr...