title: [11beta-hydroxylase deficiency].
abstract: Congenital adrenal hyperplasia due to 11beta-hydroxylase enzyme deficiency is a result of the impairment of 11-deoxycortisol to cortisol conversion. In general, it is responsible for less than 5% of the congenital adrenal hyperplasia cases. The clinical expression of androgen excess in females includes several degrees of genital ambiguity, varying from clitoromegaly to complete virilization. Due to the accumulation of mineralocorticoids, approximately 50% of the patients develop blood hypertension. Mutations in the CYP11B1 gene are responsible for the disease. Biochemical and molecular characteristics of the enzyme and their implications in the clinical presentation of 11beta-hydroxylase deficiency are reviewed here.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP. mmello@unicamp.br
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: Mello
authors.forename: Junia Yara
authors.initials: JY
authors.lastname: Penachioni
authors.forename: Fernando C do
authors.initials: FC
authors.lastname: Amaral
authors.forename: Margaret de
authors.initials: Md
authors.lastname: Castro
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007527:Isoenzymes / Q000235:genetics / Q000378:metabolism; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics / Q000378:metabolism
chemical_list: D007527:Isoenzymes; D013252:Steroid 11-beta-Hydroxylase