Endocrine Abstracts

BackgroundAcute intermittent porphyria (AIP), a rare autosomal-dominant inherited disorder, caused by pathogenic mutations in the gene encoding porphobilinogen deaminase (PBGD). To explore its clinical characteristics, we investigated three patients with AIP admitted to our hospital.MethodsIn this study, patients successfully diagnosed with AIP and treated at the First Hospital of Shanxi Medical University si...

BackgroundThe reported HMBS mutations of acute intermittent porphyria(AIP) have been increasing gradually in China. We aim to explore its mutation characteristic in China and improve the understanding of its molecular heterogeneity.Material/methodsWe searched the literature about Chinese AIP patients with HMBS mutation in the PubMed, CNKI, Wanfang and CQVIP database, and 3 AIP patients with HMBS mutation in o...

Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes caused by a mitochondrial DNA mutation. The condition is maternally inherited as mitochondrial DNA is practically only derived from oocytes. Patients typically have progressive insulinopenia, sensorineural hearing loss and maculardystrophy. We reported here 3 mitochondrial diabetes (two females and one male) and their families. Both of the 3 patients had diabetes, progressive loss of motor skills and ...

Backgrounds: Based on anthropometry and blood biochemical tests, this study aims to analyze the variation of glucose and lipid metabolism in Cushing’s syndrome (CS) patients caused by adrenal adenoma combining with flash glucose monitoring system (FGMS) and dual-energy X-ray absorptiometry (DEXA).Methods: According to the strict diagnostic and exclusion criteria, seven healthy controls (HCs) and seven CS patients were collected in this study. First,...

BackgroundsThe study aimed to explore the characteristics of glucolipid metabolism in patients with nonfunctional adrenal incidentaloma(NFAI). And investigate the relationship between these factors and insulin resistance, islet beta cell function.MethodsThis study enrolled eight patients with nonfunctional adrenal incidentaloma and five healthy controls(HCs). These data were recorded including body measuremen...