A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

doi:10.1210/jc.2008-1524

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Article

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Mar 2009

Løvås Kristian, McFarlane Ian, Nguyen Huy-Hoang, Curran Suzanne, Schwabe John, Halsall David, Bernhardt Rita, Wallace A Michael, Chatterjee V Krishna K

Abstract excerpt

CONTEXT: Three siblings of Pakistani origin presented neonatally with isolated hyperreninemic hypoaldosteronism and were well controlled on fludrocortisone therapy during childhood and adolescence. OBJECTIVE/DESIGN: These individuals were reevaluated as adults after fludrocortisone withdrawal to investigate the biochemical and molecular basis of their disorder. RESULTS: When reassessed off fludrocortisone...

Topics

Adult
Aldosterone
Cytochrome P-450 CYP11B2
Humans
Male
Mutation

Source

Open in PubMed

Identifiers

PMID: 19116236
DOI: 10.1210/jc.2008-1524

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