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Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.
[congenital adrenal hyperplasia]
Background
.
Pediatric
CAH
patients
have
an
increased
risk
of
cardiovascular
disease
,
and
it
remains
unknown
if
genetic
predisposition
is
a
contributing
factor
.
Glucocorticoid
receptor
gene
(
NR
3
C
1
)
polymorphisms
are
associated
with
an
adverse
metabolic
profile
.
Our
aim
was
to
analyze
the
association
between
the
NR
3
C
1
polymorphisms
and
the
metabolic
profile
of
pediatric
CAH
patients
.
Methods
.
Forty
-
one
patients
(
26
SW
/
15
SV
)
received
glucocorticoid
(
GC
)
replacement
therapy
to
achieve
normal
androgen
levels
.
Obesity
was
defined
by
BMI
≥
95
th
percentile
.
NR
3
C
1
alleles
were
genotyped
,
and
association
analyses
with
phenotype
were
done
with
Chi
-square
,
t-test
,
and
multivariate
and
regression
analysis
.
Results
.
Obesity
was
observed
in
31
.
7
%
of
patients
and
was
not
correlated
with
GC
doses
and
treatment
duration
.
Z-
score
BMI
was
positively
correlated
with
blood
pressure
,
triglycerides
,
LDL-c
levels
,
and
HOMA-IR
.
NR
3
C
1
polymorphisms
,
BclI
and
A
3669
G
,
were
found
in
23
.
1
%
and
9
.
7
%
of
alleles
,
respectively
.
A
3669
G
carriers
presented
higher
LDL-c
levels
compared
to
wild-
type
subjects
.
BclI-carriers
and
noncarriers
did
not
differ
.
Conclusion
.
Our
results
suggest
that
A
3669
G
-
polymorphism
could
be
involved
with
a
susceptibility
to
adverse
lipid
profile
in
pediatric
CAH
patients
.
This
study
provides
new
insight
into
the
GR
screening
during
CAH
treatment
,
which
could
help
to
identify
the
subgroup
of
at
-risk
patients
who
would
most
benefit
from
preventive
therapeutic
action
.
Diseases
Validation
Diseases presenting
"and it remains unknown if genetic predisposition is a contributing factor"
symptom
congenital adrenal hyperplasia
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