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Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
[congenital adrenal hyperplasia]
Classical
congenital
adrenal
hyperplasia
(
CAH
)
due
to
21
-
hydroxylase
deficiency
can
cause
life-threatening
adrenal
crises
as
well
as
severe
hypoglycemia
,
especially
in
very
young
children
.
Studies
of
CAH
patients
4
years
old
or
older
have
found
abnormal
morphology
and
function
of
the
adrenal
medulla
and
lower
levels
of
epinephrine
and
glucose
in
response
to
stress
than
in
controls
.
However
,
it
is
unknown
whether
such
adrenomedullary
abnormalities
develop
in
utero
and
/
or
exist
during
the
clinically
high
-risk
period
of
infancy
and
early
childhood
.
The
objective
of
the
study
was
to
characterize
adrenomedullary
function
in
infants
with
CAH
by
comparing
their
catecholamine
levels
with
controls
.
Design
/
Settings
:
This
was
a
prospective
cross-sectional
study
in
a
pediatric
tertiary
care
center
.
Plasma
epinephrine
and
norepinephrine
levels
were
measured
by
HPLC
.
Infants
with
CAH
(
n
=
9
,
aged
9
.
6
±
11
.
4
d
)
had
significantly
lower
epinephrine
levels
than
controls
[
n
=
12
,
aged
7
.
2
±
3
.
2
d
:
median
84
[
(
25
th
;
75
th
)
51
;
87
]
vs
114
.
5
(
86
;
175
.
8
)
pg
/
mL
,
respectively
(
P
=
.
02
)
]
.
Norepinephrine
to
epinephrine
ratios
were
also
significantly
higher
in
CAH
patients
than
controls
(
P
=
.
01
)
.
The
control
infants
had
primary
hypothyroidism
,
but
pre-
and
posttreatment
analyses
revealed
no
confounding
effects
on
catecholamine
levels
.
This
study
demonstrates
for
the
first
time
that
infants
with
classical
CAH
due
to
21
-
hydroxylase
deficiency
have
significantly
lower
plasma
epinephrine
levels
than
controls
,
indicating
that
impaired
adrenomedullary
function
may
occur
during
fetal
development
and
be
present
from
birth
.
A
longitudinal
study
of
adrenomedullary
function
in
CAH
patients
from
infancy
through
early
childhood
is
warranted
.
Diseases
Validation
Diseases presenting
"severe hypoglycemia"
symptom
congenital adrenal hyperplasia
cowden syndrome
esophageal carcinoma
proteus syndrome
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