Tohoku J. Exp. Med., 2000, 190 (4)

Compound Heterozygous Mutations (PHE53/54DEL and HIS373LEU) of the P450c17 Gene Result in a 17a-Hydroxylase/17,20-Lyase Deficient Male Pseudohermaphrodite with Unambiguous External Genitalia

SHIGEKI UEHARA, JUNKO SATO,1 YUKO NISHIYAMA,1 SACHIKO MATSUZAKI, TADAO FUNATO,1 JUN MUROTSUKI, NOBUO YAEGASHI, KUNIHIRO OKAMURA and AKIRA YAJIMA

Department of Obstetrics and Gynecology, and 1Department of Laboratory Medicine, Tohoku University School of Medicine, Sendai 980-8574

  • The autosomal recessive disease 17a-hydroxylase/17,20-lyase deficiency is characterized by mutation of the P450c17 enzyme, which catalyzes 17a-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 17a-hydroxylase/17, 20-lyase deficiency is suspected in Japanese patients.
    Key words--- congenital adrenal hyperplasia; CYP17; regional accumulation of the same mutations; mutation screening; XY sex reversal
    © 2000 Tohoku University Medical Press

    Tohoku J. Exp. Med., 2000, 190, 279-287
    Address for reprints: Shigeki Uehara, M.D., Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan.
    e-mail: uehara@ob-gy.med.tohoku.ac.jp

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