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Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone.
[adrenomyeloneuropathy]
Adrenoleukodystrophy
(
ALD
)
and
its
adult
variant
adrenomyeloneuropathy
(
AMN
)
are
X-
linked
diseases
associated
with
a
deficiency
in
the
peroxisomal
degradation
of
saturated
very
long
chain
fatty
acids
(
VLCFA
)
resulting
in
an
accumulation
of
VLCFA
in
the
central
and
peripheral
myelin
,
the
adrenal
cortex
and
the
testis
.
Adrenal
insufficiency
with
clinical
hypocortisolism
occurs
in
approximately
two
thirds
of
the
patients
with
AMN
.
We
studied
the
circulating
adrenal
hormones
17
alpha-hydroxyprogesterone
(
17
alpha-
OHP
)
,
androstenedione
and
dehydroepiandrosterone
sulphate
(
DHEAS
)
in
63
male
AMN
patients
(
age
17
-
65
years
)
and
the
DHEAS
serum
levels
in
95
healthy
male
controls
(
age
30
-
65
years
)
.
34
of
the
patients
presented
with
the
phenotype
of
only
spinal
cord
and
peripheral
nerve
disability
without
hypocortisolism
,
29
of
the
patients
presented
with
the
phenotype
of
either
additional
hypocortisolism
or
Addison
's
syndrome
only
.
Normal
17
alpha-
OHP
concentrations
were
found
in
all
patients
with
no
significant
difference
between
patients
without
and
with
hypocortisolism
(
6
.
07
+
/
-
0
.
61
nmol
/
l
and
4
.
76
+
/
-
0
.
37
nmol
/
l
)
.
Androstenedione
concentration
was
significantly
(
p
<
0
.
01
)
lower
in
patients
with
hypocortisolism
(
2
.
99
+
/
-
0
.
65
pmol
/
l
versus
5
.
71
+
/
-
0
.
68
pmol
/
l
)
.
As
serum
levels
of
DHEAS
are
agedependent
we
divided
the
two
groups
into
two
subgroups
each
(
subgroup
one
:
age
17
-
40
years
,
subgroup
two
:
age
41
-
65
years
)
.
The
DHEAS
concentration
of
patients
without
and
with
hypocortisolism
was
significantly
(
p
<
0
.
01
)
lower
in
both
subgroups
(
1
.
4
.
35
+
/
-
0
.
84
micromol
/
l
,
n
=
15
,
2
.
15
+
/
-
0
.
28
micromol
/
l
,
n
=
19
;
1
.
1
.
90
+
/
-
0
.
57
micromol
/
,
n
=
21
,
2
.
0
.
96
+
/
-
0
.
29
micromol
/
l
,
n
=
8
)
compared
to
controls
(
1
.
9
.
0
+
/
-
0
.
96
micromol
/
l
;
2
.
5
.
21
+
/
-
0
.
25
micromol
/
l
)
.
In
conclusion
,
androstenedione
and
DHEAS
serum
concentrations
are
subnormal
in
all
AMN
patients
and
may
therefore
serve
as
sensitive
markers
of
the
adrenal
function
in
adrenomyeloneuropathy
.
Diseases
Validation
Diseases presenting
"peripheral nerve disability without hypocortisolism"
symptom
adrenomyeloneuropathy
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