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Ectopic ACTH and CRH co-secreting tumors in children and adolescents causing Cushing syndrome: a diagnostic enigma and how to solve it.
[cushing syndrome]
Context
:
Ectopic
ACTH
/
CRH
syndrome
is
a
rare
cause
of
Cushing
syndrome
(
CS
)
,
especially
in
children
.
The
localization
,
work-up
,
and
management
of
ACTH
/
CRH
secreting
tumors
are
discussed
.
Setting
:
A
retrospective
study
was
conducted
of
patients
under
21
years
of
age
evaluated
at
the
National
Institutes
of
Health
(
NIH
)
for
CS
and
diagnosed
with
ectopic
ACTH
/
CRH
secreting
tumors
during
the
period
2009
-
2014
.
Patients
:
Seven
patients
with
ectopic
ACTH
/
CRH
syndrome
are
included
in
this
study
,
median
age
13
.
6
years
(
range
1
-
21
)
,
3
female
.
Measurements
:
Clinical
,
biochemical
,
radiological
features
,
treatment
and
histological
findings
are
described
.
Results
:
Seven
patients
were
found
to
have
ACTH
/
CRH
secreting
tumors
with
neuroendocrine
features
.
The
site
of
the
primary
lesion
varied
:
pancreas
(
3
)
,
thymus
(
2
)
,
liver
(
1
)
,
right
lower
pulmonary
lobe
(
1
)
.
Patients
underwent
biochemical
evaluation
for
CS
,
including
diurnal
serum
cortisol
and
ACTH
levels
,
urinary
free
cortisol
levels
(
UFC
)
,
and
CRH
stimulation
tests
.
All
patients
underwent
radiological
investigations
including
MRI
,
CT
and
PET
scan
;
imaging
with
octreotide
and
68
gallium
DOTA-TATE
scans
were
performed
in
individual
cases
.
Five
patients
underwent
inferior
petrosal
sinus
sampling
;
4
patients
had
sampling
for
ACTH
levels
from
additional
sites
.
Three
patients
underwent
transsphenoidal
surgery
(
TSS
)
,
and
3
patients
required
bilateral
adrenalectomy
.
3
patients
(
43
%
)
died
due
to
metastatic
disease
,
demonstrating
the
high
mortality
rate
.
One
of
the
unique
findings
in
these
seven
patients
is
that
in
each
case
,
their
neuroendocrine
tumors
were
ultimately
proven
to
be
co
-secreting
ACTH
and
CRH
.
This
explains
the
enigmatic
presentation
,
in
which
3
patients
initially
thought
to
have
Cushing
's
disease
(
CD
)
with
corresponding
pituitary
hyperplasia
underwent
TSS
prior
to
the
correct
localization
of
the
causative
tumor
.
Conclusions
:
Ectopic
ACTH
/
CRH
co
-secreting
tumors
are
extremely
rare
in
children
and
adolescents
.
Its
diagnosis
is
frequently
missed
and
is
sometimes
confused
with
CD
due
to
the
effect
of
CRH
on
the
pituitary
.
Diseases
Validation
Diseases presenting
"tumors during the period"
symptom
cushing syndrome
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