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Type: Artigo de periódico
Title: [11beta-hydroxylase Deficiency].
Author: Mello, Maricilda Palandi
Penachioni, Junia Yara
Amaral, Fernando C do
Castro, Margaret de
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.
Subject: Adrenal Hyperplasia, Congenital
Steroid 11-beta-hydroxylase
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. v. 48, n. 5, p. 713-23, 2004-Oct.
Rights: aberto
Identifier DOI: /S0004-27302004000500018
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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