title: [Rare congenital defects of adrenal steroidogenesis].
abstract: Congenital defects of adrenal steroidogenesis comprises a group of autosomally recessive disorders, which are usually caused by inactivating mutations in single enzymes involved in adrenal steroid biosynthesis. Each of the defects causes different biochemical consequences and clinical features. A different degree of enzyme dysfunction is responsible for a wide range of phenotypic expression even in the same disorder. The basis for the diagnosis of inborn errors of steroidogenesis are often refined methods for steroid determination. Because these defects may result in life-threatening conditions and, if not treated, lead to serious complications, its is essential to consider their presence in a differential diagnosis of various symptoms. Deficiency of 21-hydroxylase, the most common of these disorders, has been recently extensively reviewed. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of other less frequent defects of adrenal steroidogenesis.
authors.affiliation: Klinika Chorob Wewnetrznych i Farmakologii Klinicznej Katedry Farmakologii, Slaski Uniwersytet Medyczny, Katowice, Poland. r.krysiak@poczta.onet.pl
authors.forename: Robert
authors.initials: R
authors.lastname: Krysiak
authors.forename: Bogdan
authors.initials: B
authors.lastname: Marek
authors.forename: Bogusław
authors.initials: B
authors.lastname: Okopień
mesh_terms: D000305:Adrenal Cortex Hormones / Q000378:metabolism*; D000307:Adrenal Gland Diseases / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency; D006801:Humans; D006899:Mixed Function Oxygenases / Q000378:metabolism; D009154:Mutation; D035583:Rare Diseases; D013254:Steroid 17-alpha-Hydroxylase / Q000378:metabolism; D013255:Steroid 21-Hydroxylase / Q000378:metabolism
chemical_list: D000305:Adrenal Cortex Hormones; D006899:Mixed Function Oxygenases; D013255:Steroid 21-Hydroxylase; D013254:Steroid 17-alpha-Hydroxylase; D019405:Cytochrome P-450 CYP11B2