Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17α-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia

Shigeki Uehara, Junko Sato, Yuko Nishiyama, Sachiko Matsuzaki, Tadao Funato, Jun Murotsuki, Nobuo Yaegashi, Kunihiro Okamura, Akira Yajima

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)279-287
Number of pages9
JournalTohoku Journal of Experimental Medicine
Issue number4
Publication statusPublished - 2000 Apr


  • CYP17
  • Congenital adrenal hyperplasia
  • Mutation screening
  • Regional accumulation of the same mutations
  • XY sex reversal

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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