Rare Diseases Symptoms Automatic Extraction
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Multiple endocrine neoplasia type IIa associated with Cushing's syndrome.
[cushing syndrome]
Multiple
Endocrine
Neoplasia
type
IIa
(
MEN
IIa
)
is
an
autosomal
dominant
syndrome
characterized
by
pheochromocytoma
,
medullary
thyroid
carcinoma
and
hyperparathyroidism
.
Pheochromocytoma
occurs
in
approximately
50
%
of
patients
with
MEN
IIa
.
This
tumor
has
the
capacity
to
produce
ACTH
ectopically
and
manifests
as
the
Cushing
syndrome
,
although
it
is
very
rare
.
We
report
a
26
-
year
-old
woman
patient
with
severe
muscle
weakness
,
skin
lesions
in
extremities
,
hypertension
,
and
new
onset
diabetes
whose
laboratory
findings
included
hypokalemia
,
metabolic
alkalosis
,
high
serum
level
of
cortisol
,
metanephrine
,
normetanephrine
,
calcitonin
and
bilateral
adrenal
mass
in
computed
tomography
as
the
first
clinical
manifestations
of
an
ACTH-secreting
pheochromocytoma
.
In
the
patients
with
hypertension
,
new
onset
diabetes
and
hypokalemia
,
the
Cushing
syndrome
and
pheochromocytoma
should
always
be
ruled
out
.
Diseases
Validation
Diseases presenting
"metabolic alkalosis"
symptom
cushing syndrome
hirschsprung disease
pendred syndrome
This symptom has already been validated