Type 2 diabetes (T2D) and low serum concentration of high-density lipoprotein cholesterol (HDL-c) are common coexisting metabolic disorders. ABCA1 variants have been shown to be associated to these conditions. We sought to test the combined effect of two ABCA1 gene common variants, rs2422493 (− 565C > T) and rs9282541 (R230C) on HDL-c levels and T2D risk. Path analysis was conducted in 3,303 Mexican-mestizos to assess the specific contributions of rs2422493 and rs9282541 ABCA1 variants, insulin ...
Background Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological impairment and dermatological abnormalities.
Purpose Acromegaly is a cause of secondary osteoporosis and is associated with increased risk of vertebral fractures (VFs). The influence of exon 3-deleted isoform of growth hormone receptor (d3-GHR) on bone microarchitecture has not been studied in acromegaly.
Purpose Graves’ disease (GD) can present as an isolated disease (iGD) or in association with other autoimmune diseases (aGD). The aim of this study, performed in two Endocrine referral centers settled in different geographical areas of Italy, was to compare the anthropometric, clinical, and biochemical phenotype of iGD patients with that of the aGD ones.