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The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
[congenital adrenal hyperplasia]
Patients
with
congenital
adrenal
hyperplasia
due
to
21
-
hydroxylase
deficiency
(
21
OHD
)
have
an
impaired
cortisol
synthesis
,
but
it
is
unknown
whether
the
metabolism
of
glucocorticoids
differs
between
neonates
and
infants
with
and
without
21
OHD
.
The
objective
of
this
study
was
to
compare
the
glucocorticoid
metabolism
between
neonates
and
infants
with
and
without
21
OHD
.
We
analyzed
14
urinary
glucocorticoid
metabolites
,
7
metabolites
each
of
cortisol
and
cortisone
,
by
gas
chromatography-mass
spectrometry
of
89
untreated
21
OHD
neonates
and
infants
and
161
neonates
and
infants
without
21
OHD
.
Neonates
with
21
OHD
exhibit
elevated
relative
amounts
of
cortisol
metabolites
in
total
glucocorticoid
metabolism
and
an
increased
ratio
of
cortisol
to
cortisone
metabolites
(
p
<
0
.
0001
)
.
This
reflects
a
shift
toward
cortisol
in
the
relative
balance
of
the
interconversion
between
cortisol
and
cortisone
.
The
ratio
of
cortisol
to
cortisone
metabolites
correlated
significantly
with
low
urinary
glucocorticoid
concentrations
(
p
<
0
.
03
)
,
with
low
21
-
hydroxylase
activity
(
p
<
0
.
001
)
and
high
urinary
sodium
and
chloride
concentrations
(
p
<
0
.
05
)
in
neonates
with
21
OHD
.
O
ur
results
demonstrate
substantial
changes
in
the
relative
cortisone
to
cortisol
interconversion
in
neonates
with
21
OHD
.
The
shift
of
glucocorticoid
metabolism
toward
active
cortisol
in
neonates
with
21
OHD
seems
to
be
related
to
the
severity
of
21
OHD
and
adrenal
dysfunction
.
Our
data
provide
new
insights
into
the
regulation
of
glucocorticoid
homeostasis
in
21
OHD
.
Diseases
Validation
Diseases presenting
"an increased ratio of cortisol to cortisone metabolites"
symptom
congenital adrenal hyperplasia
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