Adrenal insufficiency is an insidious diagnosis that can be initially misdiagnosed as other life-
threatening endocrine conditions, as well as sepsis, metabolic disorders, or cardiovascular …

Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia
(CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD …

The adrenal glands synthesize and release essential steroid hormones such as cortisol and
aldosterone, but many aspects of human adrenal gland development are not well …

Biallelic variants of steroidogenic acute regulatory protein (STAR/STARD1) may cause
primary adrenal insufficiency and 46, XY disorder of sex development. STAR plays a pivotal …

Background: DSD encompass a wide range of pathologies that impact gonad formation,
development, and function in both 46, XX and 46, XY individuals. The majority of these …

Abstract Background Autoimmune Addison's disease (AAD) is the most common cause of
primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to …

The adrenal glands are small endocrine glands located on top of each kidney, producing
hormones regulating important functions in our body like metabolism and stress. There are …

Our research has shown that little progress has been made regarding our knowledge on AI.
Coronavirus disease 2019 and ICIs use constitute new evidence on the pathogenesis of AI …

Background Pathogenic variants in the nicotinamide nucleotide transhydrogenase gene
(NNT) are a rare cause of primary adrenal insufficiency (PAI), as well as functional …

Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient
glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to …