[11beta-hydroxylase deficiency].
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.
Mello
Maricilda Palandi
MP
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP. mmello@unicamp.br
Penachioni
Junia Yara
JY
Amaral
Fernando C do
FC
Castro
Margaret de
Md
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
D007527:Isoenzymes; D013252:Steroid 11-beta-Hydroxylase