Rare Diseases Symptoms Automatic Extraction
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Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred.
[cushing syndrome]
The
objective
of
this
study
is
to
present
a
familial
Cushing
syndrome
(
CS
)
caused
by
multiple
endocrine
neoplasia
type
1
(
MEN-
1
)
-
associated
thymic
carcinoid
.
Immunohistochemistry
,
gene
sequencing
,
loss
of
heterozygosity
analysis
,
and
Western
blot
were
used
to
determine
the
expression
of
ACTH
in
MEN-
1
-
related
thymic
tumors
,
MEN
1
gene
mutation
,
the
pattern
and
extent
of
allelic
deletion
,
and
the
expression
of
Menin
in
MEN-
1
-
associated
tumors
,
respectively
.
Tumor
cells
from
thymus
ectopic
-secreted
ACTH
.
A
deletion
involving
the
MEN
1
gene
locus
was
confirmed
.
The
expression
of
Menin
in
MEN-
1
-
associated
tumors
declined
.
To
conclude
,
we
presented
an
unusual
kindred
of
MEN-
1
,
which
pointed
out
the
significance
of
making
screening
of
MEN-
1
for
both
male
and
female
patients
with
CS
and
thymic
carcinoid
.
