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Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
characterized
by
central
nervous
system
demyelination
,
and
impaired
steroidogenesis
in
the
adrenal
cortex
and
testis
.
Most
patients
develop
adrenocortical
insufficiency
.
We
studied
retrospectively
the
frequency
and
severity
of
testicular
dysfunction
in
26
men
with
X-
ALD
.
Twenty
-
one
had
adrenomyeloneuropathy
and
five
patients
were
neurologically
asymptomatic
.
In
addition
to
obtaining
a
routine
history
and
physical
examination
,
we
studied
plasma
levels
of
testosterone
,
sex
hormone
binding
globulin
,
the
free
androgen
index
,
and
the
plasma
concentrations
of
dehydroepiandrosterone-sulphate
,
LH
and
FSH
.
In
a
subset
of
patients
,
the
testosterone
response
to
hCG
and
the
LH
and
FSH
responses
to
GnRH
were
also
determined
.
Clinical
signs
of
gonadal
dysfunction
were
manifested
by
diminished
libido
(
46
%
)
,
largely
overlapping
with
erectile
dysfunction
(
58
%
)
,
and
failure
of
the
testes
to
descend
(
15
%
)
.
Physical
examination
revealed
diminished
body
sexual
hair
(
50
%
)
,
gynaecomastia
(
35
%
)
,
and
small
testes
(
12
%
)
.
Laboratory
studies
showed
low
plasma
total
testosterone
levels
in
12
%
,
and
an
insufficient
increase
after
stimulation
with
hCG
in
88
%
(
15
of
17
patients
tested
)
.
Plasma
LH
concentration
was
increased
in
16
%
,
and
the
plasma
FSH
level
was
elevated
in
32
%
.
The
response
of
LH
concentrations
to
GnRH
stimulation
was
abnormally
high
in
47
%
(
nine
of
19
patients
studied
)
,
and
the
response
of
FSH
levels
was
too
low
in
16
%
(
three
of
19
patients
tested
)
.
In
conclusion
,
in
a
retrospective
study
of
26
men
'
with
X-
ALD
,
in
20
some
signs
of
clinical
hypogonadism
were
found
.
Plasma
testosterone
values
were
generally
in
the
normal
range
,
but
upon
testing
of
the
hypothalamo-
pituitary
-testis
axis
some
abnormalities
became
apparent
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
