Endocrine Abstracts

Aims and objectives: This study was undertaken to look at the agreement between the hologic database (HD) based on NHANES bone mineral density (BMD) data in Caucasians and the ICMR database (ICMRD) published in 2010 in defining normal and subnormal BMD in subjects with or without hip fracture and to arrive at a BMD cut off which has a high sensitivity of predicting fracture.Materials and methods: A cross sectional study of 3098 subjects (men-341 and wome...

Background: Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant inherited form of lipodystrophy due to mutation in the LMNA gene on chromosome 1q22. It is characterized by selective loss of subcutaneous adipose tissue from the limbs and trunk, with accumulation of fat in the neck and face, insulin resistance, diabetes mellitus and dyslipidemia.Objective: To study the clinical features and establish the molecular diagnosis of two subjec...

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...