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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
[congenital adrenal hyperplasia]
The
purpose
of
the
study
was
to
evaluate
endocrine
patterns
of
patients
with
congenital
adrenal
hyperplasia
and
each
gene
mutation
and
to
analyze
the
correlation
between
each
phenotype
and
genotype
.
This
was
a
retrospective
study
of
the
patients
with
congenital
adrenal
hyperplasia
in
the
pediatric
outpatient
clinic
at
the
Samsung
Medical
Center
from
November
1994
to
December
2012
.
We
analyzed
the
medical
records
of
27
patients
(
male
,
19
;
female
,
8
)
with
congenital
adrenal
hyperplasia
who
had
been
diagnosed
by
genetic
testing
to
have
21
-
hydroxylase
deficiency
.
In
genetic
analysis
of
54
alleles
from
27
patients
,
13
types
of
mutations
were
identified
.
The
distribution
of
21
-
hydroxylase
deficiency
gene
mutations
revealed
that
intron
2
splice
site
(
c
.
293
-
13
A
/
C
>
G
)
mutations
and
large
deletions
were
the
most
common
,
at
31
.
5
%
and
22
.
2
%
respectively
,
followed
by
p
.
I
173
N
,
p
.
R
356
W
,
and
p
.
I
172
N
mutations
at
11
.
1
%
,
9
.
3
%
,
and
9
.
3
%
,
respectively
.
Other
mutations
were
observed
at
1
.
9
-
3
.
7
%
.
No
novel
mutations
were
detected
.
The
analysis
of
54
alleles
revealed
13
types
of
mutation
.
The
salt
wasting
form
showed
a
good
correlation
between
genotype
and
phenotype
,
but
the
simple
virilizing
and
nonclassic
forms
showed
inconsistencies
between
genotype
and
phenotype
.
The
distribution
of
CYP
21
A
2
mutations
was
evaluated
for
21
-
hydroxylase
deficiency
patients
from
a
single
center
.
This
study
provides
limited
data
on
mutation
spectrum
and
genotype-phenotype
correlation
of
21
-
hydroxylase
deficiency
in
Korea
.
Diseases
Validation
Diseases presenting
"large deletions"
symptom
alpha-thalassemia
congenital adrenal hyperplasia
cowden syndrome
fabry disease
kindler syndrome
lamellar ichthyosis
von hippel-lindau disease
werner syndrome
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