TY - JOUR
T1 - 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
AU - Uehara, Shigeki
AU - Sato, Junko
AU - Nishiyama, Yuko
AU - Matsuzaki, Sachiko
AU - Funato, Tadao
AU - Murotsuki, Jun
AU - Yaegashi, Nobuo
AU - Okamura, Kunihiro
AU - Yajima, Akira
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2000/4
Y1 - 2000/4
N2 - 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.
AB - 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.
KW - CYP17
KW - Congenital adrenal hyperplasia
KW - Mutation screening
KW - Regional accumulation of the same mutations
KW - XY sex reversal
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U2 - 10.1620/tjem.190.279
DO - 10.1620/tjem.190.279
M3 - Article
C2 - 10877510
AN - SCOPUS:0034167938
VL - 190
SP - 279
EP - 287
JO - Tohoku Journal of Experimental Medicine
JF - Tohoku Journal of Experimental Medicine
SN - 0040-8727
IS - 4
ER -