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Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation.
[cushing syndrome]
Multiple
endocrine
neoplasia
type
1
(
MEN
1
)
is
an
autosomal
dominant
syndrome
.
Although
thymic
carcinoid
tumor
is
recognized
as
a
part
of
MEN
1
syndrome
but
functioning
thymic
carcinoid
tumor
as
the
first
presentation
of
the
MEN
1
seems
to
be
very
rare
.
In
this
report
,
we
present
a
29
-
year
-old
male
who
developed
ectopic
Cushing
syndrome
secondary
to
thymic
carcinoid
tumor
and
was
diagnosed
as
MEN
1
syndrome
2
years
later
.
Further
evaluation
revealed
the
presence
of
carcinoid
tumor
and
other
MEN
1
manifestations
in
several
other
member
of
family
.
Genetic
evaluation
showed
presence
of
a
previously
reported
mutation
in
exon
10
(
R
527
X
)
of
MEN
1
gene
in
these
patients
.
This
presentation
showed
that
thymic
neuroendocrine
tumor
could
be
the
first
manifestation
of
the
MEN
1
syndrome
and
it
might
be
diagnosed
as
a
dominant
manifestation
of
this
syndrome
in
a
family
.
We
suggest
biochemical
or
genetic
screening
for
MEN-
1
syndrome
for
patients
with
thymic
carcinoid
.
Diseases
Validation
Diseases presenting
"further evaluation"
symptom
allergic bronchopulmonary aspergillosis
cushing syndrome
dedifferentiated liposarcoma
hirschsprung disease
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
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