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Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
[congenital adrenal hyperplasia]
Abstract
Patients
with
congenital
adrenal
hyperplasia
(
CAH
)
due
to
21
-
hydroxylase
deficiency
need
glucocorticoid
(
GC
)
therapy
,
which
alters
bone
mineral
metabolism
.
We
analyze
clinical
and
biochemical
parameters
and
different
polymorphisms
of
candidate
genes
associated
with
bone
mineral
density
(
BMD
)
in
CAH
patients
.
The
CAH
patients
treated
with
GC
and
healthy
controls
were
studied
.
Anthropometric
parameters
,
biochemical
markers
of
bone
turnover
,
and
BMD
were
evaluated
.
Polymerase
chain
reaction
technique
was
used
to
genotype
different
candidate
genes
.
The
192
-
192
genotype
frequency
(
IGF-
I
)
was
lower
in
poorly
controlled
patients
than
that
from
controls
.
In
CAH
patients
,
FF
genotype
(
vitamin
D
receptor
,
VDR
)
correlated
with
lower
lumbar
spine
BMD
and
there
was
a
significant
association
between
the
0
-
0
genotype
(
IGF-
I
)
and
high
values
of
β-
CrossLaps
and
a
low
total
BMD
.
This
study
contributes
to
understanding
of
the
association
of
genetic
determinants
of
BMD
with
the
variable
response
to
GC
treatment
in
CAH
patients
and
demonstrates
the
usefulness
of
these
genetic
polymorphisms
.
