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X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
[x-linked adrenoleukodystrophy]
We
present
the
clinical
and
hormonal
findings
of
a
young
male
with
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
with
special
emphasis
on
the
biochemical
and
clinical
pattern
of
hypogonadism
.
A
patient
,
with
primary
adrenal
insufficiency
since
the
age
of
5
years
,
developed
progressive
neurological
symptoms
at
the
age
of
29
.
Diagnosis
of
X-
ALD
was
established
by
elevated
serum
very
long
chain
fatty
acids
(
VLCFAs
)
and
genetic
testing
.
His
sexual
body
hair
was
sparse
.
Hormonal
investigations
revealed
normal
testosterone
and
inappropriately
elevated
LH
levels
.
Androgen
receptor
gene
analysis
was
negative
for
mutations
or
polymorphic
variants
associated
with
decreased
receptor
activity
.
Signs
of
hypogonadism
in
patients
with
confirmed
X-
ALD
are
not
exclusively
due
to
primary
testicular
failure
.
Tissue
specific
androgen
resistance
represents
an
alternative
possibility
.
Since
no
loss
-of-function
mutations
were
detected
in
the
androgen
receptor
,
it
is
speculated
that
the
patient
's
androgen
resistance
could
be
part
of
a
functional
defect
mediated
through
VLCFA
accumulation
at
the
testosterone
receptor
and
/
or
post-receptor
levels
.
Diseases
Validation
Diseases presenting
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated