title: The adrenal.
abstract: During the past 15 years, considerable progress has been made in our understanding of the genetic basis of adrenal development and function. More than 30 single gene disorders have now been identified that can affect the hypothalamic-pituitary-adrenal axis in humans (fig. 1, 2; table 1). This review highlights recent advances in the molecular pathology of: (1) adrenal hypoplasia, (2) adrenal destruction, (3) disorders of adrenal steroidogenesis, (4) adrenal steroid resistance and (5) activation of the adrenal axis/tumorigenesis. Characterizing the molecular basis and natural history of these conditions is providing fascinating insight into adrenal development and function and can help to focus treatment and counselling of patients appropriately. However, ongoing translation of research findings into clinical practice is needed if patient care is to be influenced significantly.
authors.affiliation: Department of Medicine and Institute of Child Health, University College London, London, UK.
authors.forename: Lin
authors.initials: L
authors.lastname: Lin
authors.forename: John C
authors.initials: JC
authors.lastname: Achermann
mesh_terms: D000224:Addison Disease / Q000235:genetics; D000307:Adrenal Gland Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000311:Adrenal Glands / Q000002:abnormalities / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000818:Animals; D001284:Atrophy; D004351:Drug Resistance / Q000235:genetics; D005938:Glucocorticoids / Q000378:metabolism; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D008901:Mineralocorticoids / Q000378:metabolism; D010913:Pituitary-Adrenal System / Q000503:physiopathology; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics
chemical_list: D005938:Glucocorticoids; D008901:Mineralocorticoids; D000324:Adrenocorticotropic Hormone