ESPE Abstracts

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...

Background: A20 (HA20) haploinsufficiency is a disease that causes persistent inflammation throughout the body due to a deficiency of the A20 protein, which suppresses the production of inflammatory cytokines such as TNF-α. It was first reported in 2016 as an inherited autoinflammatory disease with Behcet's disease-like symptoms that develops at a young age and has been reported to be associated with autoimmune diseases such as Hashimoto's dise...

Background and Purpose: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycaemia and is usually diagnosed in the first six months of life. Genetic diagnosis helps distinguish among its different causes and between transient and permanent forms, and the diagnosis has repercussions for the therapeutic approach and follow-up. We present three cases of NDM with different genetic abnormalities and different clinical courses....