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Diagnosis of late-onset congenital adrenal hyperplasia in clinical practice: current evaluation.
[congenital adrenal hyperplasia]
Aim
of
the
study
was
to
investigate
the
need
to
perform
the
adrenocorticotropic
hormone
(
ACTH
)
stimulation
test
by
recognizing
the
importance
of
a
second
look
at
basal
serum
17
-
alpha
hydroxyprogesterone
(
17
-
OHP
)
levels
and
calculating
new
serum
17
-
OHP
cut-off
level
.
A
total
of
142
patients
who
had
hyperandrogenism
symptoms
and
had
basal
serum
17
-
OHP
levels
of
higher
than
1
.
3
ng
/
mL
were
scheduled
to
have
an
ACTH
stimulation
test
performed
.
Prior
to
ACTH
stimulation
,
17
-
OHP
levels
were
recorded
and
as
second
-look
levels
.
Patients
were
divided
to
two
groups
,
late-onset
congenital
adrenal
hyperplasia
(
LOCAH
)
(
25
/
142
)
,
non-
LOCAH
(
117
/
142
)
.
There
were
statistically
significant
results
related
to
cycle
length
and
menstrual
irregularity
between
two
groups
(
P
=
0
.
042
,
P
=
0
.
041
,
respectively
)
.
In
the
LOCAH
group
,
basal
serum
17
OHP
levels
were
higher
than
non-
LOCAH
(
P
=
0
.
001
)
.
When
basal
serum
17
-
OHP
levels
were
measured
a
second
time
,
the
need
for
performing
the
ACTH
stimulation
test
was
decreased
.
According
to
cut-off
levels
of
1
.
3
ng
/
mL
,
100
%
of
patients
needing
to
take
the
second
serum
17
-
OHP
decreased
to
83
.
1
%
,
a
cut-off
level
of
2
ng
/
mL
decreased
numbers
from
74
.
65
%
to
35
.
92
%
and
for
2
.
25
ng
/
mL
58
.
42
%
of
patients
was
decreased
to
26
.
77
%
.
In
this
study
we
established
2
.
25
ng
/
ml
is
a
superior
cut-off
level
for
17
-
OHP
,
its
sensitivity
is
84
%
and
specifity
is
50
.
4
%
.
The
incidence
of
LOCAH
is
1
.
35
%
among
the
patients
with
hyperandrogenism
symptoms
.
We
found
a
single
measurement
of
serum
17
-
OHP
level
can
be
unreliable
.
Second
17
-
OHP
test
reduces
the
need
of
performing
the
ACTH
stimulation
test
by
approximately
30
%
.
Diseases
Validation
Diseases presenting
"statistically significant results"
symptom
congenital adrenal hyperplasia
fabry disease
oral submucous fibrosis
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