Article
Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia.
The Tohoku journal of experimental medicine - 1 Apr 2000
Uehara S, Sato J, Nishiyama Y, Matsuzaki S, Funato T, Murotsuki J, Yaegashi N, Okamura K, Yajima A
Abstract excerpt
The autosomal recessive disease 17alpha-hydroxylase/17,20-lyase deficiency is characterized by mutation of the P450c17 enzyme, which catalyzes 17alpha-hydroxylation and 17,20-lysis in the steroidogenic pathways. Although 17 mutations of this enzyme have been reported, only a few of them resulted in a completely unambiguous phenotype of female external genitalia in 46, XY individuals. We report here a Japanese...
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