21-羥缺乏所致之先天性腎上腺增生的分子病變
Date Issued
1999
Date
1999
Author(s)
蔡文友
DOI
882314B002178
Abstract
Classic congenital adrenal hyperplasia
(CAH) due to steroid 21-hydroxylase
deficiency is a common endocrine disorder in
children. In the present study, we
genotyped 62 patients from 57 unrelated
families. Our results showed that the most
common mutation was I172N (22.8%),
followed by intron 2 splicing mutation
(21.1%), deletion or large gene conversion
(LGC)(14%) and R356W(8.8%). One
novel mutation in exon 9 was detected in a
simple virilizer who also carried the I172N
mutation. There was good correlation
between genotype and phenotype. All
patients with both null alleles are salt losers.
Patients with intron 2 as the determining
alleles are all salt losers except one simple
virilizer. All patients carrying I172N are
simple virilizer.
二、Introduction
Classic CAH due to 21-hydroxylase
deficiency is a common disorder in children.
Forty-nine mutations of the steroid 21-
hydroxylase gene has been reported [1-3].
Although some discrepancies have been
reported, the genotype generally correlates
with the phenotype [4,5]. The mutation
study of CAH patients in Taiwan has been
reported [6-8]. However, the phenotypegenotype
correlation has not been reported
before. In the present study, we analyzed the
molecular pathology of 62 classic CAH
patients with allele-specific PCR and PCRsingle
strand conformation polymorphism
(SSCP) in order to provide information for the
rapid diagnosis in the suspected neonates and
prenatal diagnosis in high-risk families.
Subjects
congenital adrenal hyperplasia
21-hydroxylase deficiency
Publisher
臺北市：國立臺灣大學醫學院小兒科
Type
report
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