Article
Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.
The Journal of clinical endocrinology and metabolism - 1 Sept 2009
Soardi Fernanda C, Penachioni Junia Y, Justo Giselle Z, Bachega Tânia A S S, Inácio Marlene, Mendonça Berenice B, de Castro Margaret, de Mello Maricilda P
Abstract excerpt
BACKGROUND: Deficiency of 11 beta-hydroxylase results in the impairment of the last step of cortisol synthesis. In females, the phenotype of this disorder includes different degrees of genital ambiguity and arterial hypertension. Mutations in the CYP11B1 gene are responsible for this disease. OBJECTIVE: The objective of the study was to screen the CYP11B1 gene for mutations in two unrelated Brazilian females with...
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