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Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
[adrenomyeloneuropathy]
X-
linked
adrenomyeloneuropathy
(
X-
AMN
)
is
a
genetic
disorder
that
primarily
affects
the
adrenal
cortex
and
the
nervous
system
.
The
disease
shows
a
wide
range
of
phenotypic
expression
,
age
of
onset
,
and
rate
of
progression
.
We
present
a
thalassemic
23
-
year
-old
man
with
X-
AMN
and
multiple
endocrine
disorders
.
At
age
2
years
,
he
was
diagnosed
with
thalassaemia
intermedia
,
and
he
was
receiving
occasional
blood
transfusions
and
maintaining
an
adequate
hemoglobin
level
without
signs
of
extramedullar
hematopoiesis
or
hemosiderosis
.
During
adolescence
,
he
was
diagnosed
with
growth
hormone
deficiency
,
primary
hypothyroidism
,
and
primary
adrenal
insufficiency
.
In
his
early
20
s
he
demonstrated
progressive
tetraparesis
,
and
the
diagnosis
of
X-
AMN
was
confirmed
by
DNA
analysis
of
the
ABCD
1
gene
.
T
his
patient
expands
the
phenotype
X-
AMN
by
adding
growth
hormone
deficiency
and
hypothyroidism
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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