title: Advances in the understanding of the genetic basis of adrenal insufficiency.
abstract: Primary adrenal failure in a pediatric population most frequently results from autoimmune destruction of the gland. Recent discoveries regarding the genetic factors underlying this and other inherited causes of adrenocortical failure provide valuable insights into the molecular basis of adrenal development and function. Among these are the clinical syndromes resulting from defects in DAX-1 and SF-1 and the functional defects caused by mutations in the ACTH receptor and the StAR protein. Adrenoleukodystrophy and the triple A syndrome result from the degenerative effects induced by failure of very long chain fatty acid metabolism in the former case and the unknown effects of a novel protein that is mutated in the latter case. This review summarizes these recent findings and briefly describes the possible pathogenetic mechanisms that they reveal.
authors.affiliation: Department of Endocrinology, St. Bartholomew 's Hospital and Queen Mary University of London, London, UK.
authors.forename: Helen L
authors.initials: HL
authors.lastname: Storr
authors.forename: Martin O
authors.initials: MO
authors.lastname: Savage
authors.forename: Adrian J L
authors.initials: AJ
authors.lastname: Clark
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; D006801:Humans; D018043:Receptors, Corticotropin / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; C539965:NR0B1 protein, human; D018043:Receptors, Corticotropin; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D054339:Steroidogenic Factor 1; D014157:Transcription Factors