The autosomal recessive disease 17α-hydroxylase/17,20-lyase deficiency is characterized by mutation of the P450c17 enzyme, which catalyzes 17α-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 patient with a 46,XY karyotype, who showed such a unambiguous female external genitalia. Nucleotide sequencing of the P450c17 gene revealed the patient to be a compound heterozygote carrying two different mutations (PHE53/ 54DEL in exon 1 and HIS373LEU in exon 6). As these mutations have been previously detected in unrelated Japanese patients, it is confirmed that these mutations accumulate regionally. Since these mutations could be screened by a multiple genotyping method, the method is applicable when 17α-hydroxylase/17, 20-lyase deficiency is suspected in Japanese patients.
- Congenital adrenal hyperplasia
- Mutation screening
- Regional accumulation of the same mutations
- XY sex reversal
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)