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Article

Seventeen alpha-hydroxylase deficiency.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2006

Wong Siew-Lee, Shu San-Ging, Tsai Chi-Ren

Abstract excerpt

Seventeen alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess, hypokalemic hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. The disease is inherited in an autosomal recessive pattern, and is caused by mutations in the...

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Source

Identifiers

PMID: 16477341
DOI: 10.1016/S0929-6646(09)60342-9

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Seventeen alpha-hydroxylase deficiency.PMID 16477341Read ↗

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