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Article

A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency.

Annals of human genetics - 1 May 1997

Monno S, Mizushima Y, Toyoda N, Kashii T, Kobayashi M

Abstract excerpt

A new CYP17 gene abnormality was found in three Japanese patients with 17 alpha-hydroxylase deficiency (170HD). These patients were children from consanguineous marriages, but from two apparently unrelated families: one patient with 46, XY karyotype, and two siblings with 46, XX and 46, XY karyotypes. They were all raised as girls and presented with amenorrhea, eunuchoid appearance and hypertension. Gene analysis...

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Identifiers

PMID: 9250356
DOI: 10.1046/j.1469-1809.1997.6130275.x

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