Endocrine Abstracts

Hypoparathyroidism is an uncommon condition characterized by reduced parathyroid hormone production resulting in hypocalcaemia with its clinical manifestations. A minority of cases are familial and exist as either isolated disease or as part of well described, multisystem syndromes. Mutation in the Autoimmune regulator gene (AIRE) results in Autoimmune Polyglandular Syndrome type 1 featuring hypoparathyroidism as a part of the syndrome. This case reported herein describes a mu...

Maternally inherited diabetes and deafness (MIDD) is rare subtype and monogenic form of adult onset diabetes caused from point mutation at position 3243 of mitochondrial DNA. The name indicates the main features of disease including diabetes and sensorineural hearing loss. About one percent of people with diabetes can have MIDD but the diagnosis can be challenging and needs high clinical suspicion on basis of family history, clinical features of diabetes, deafness and unusual ...