[Genetic adrenal diseases].
The development of molecular biological techniques has unveiled much information on the pathogenesis of many disease at the DNA and RNA level, as well as provided a considerable improvement in diagnostic potential and treatment. The advantages achieved in molecular biology and genetic engineering have also found application in endocrinology. This paper reviews current knowledge on the role of genetic factors in the pathogenesis of adrenal diseases. Congenital adrenal hyperplasia, idiopathic hyperaldosteronism, adrenal hypoplasia congenita, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, ACTH resistance syndrome, and adrenal hereditary tumors are described.
Turowska
Olga
O
Zakład Biochemii Klinicznej, Centrum Medyczne Kształcenia Podyplomowego w Warszawie. olga.turowska@cmkp.edu.pl
Ferenc
Tomasz
T
Lewiński
Andrzej
A
D000307:Adrenal Gland Diseases / Q000151:congenital* / Q000235:genetics* / Q000378:metabolism; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D018043:Receptors, Corticotropin / Q000235:genetics / Q000378:metabolism; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018043:Receptors, Corticotropin; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins