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Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
[congenital adrenal hyperplasia]
Although
chronic
adrenocorticotropic
hormone
(
ACTH
)
and
androgen
hyperstimulation
are
assumed
to
be
involved
in
the
pathogenesis
of
adrenal
myelolipomas
associated
with
poor
-compliance
patients
with
congenital
adrenal
hyperplasia
(
CAH
)
,
the
expression
of
their
receptors
has
not
yet
been
demonstrated
in
these
tumors
so
far
.
We
analyzed
Melanocortin
2
receptor
(
MC
2
R
)
,
Androgen
Receptor
(
AR
)
,
Leptin
(
LEP
)
,
and
Steroidogenic
factor
1
(
SF
1
)
expression
using
real-time
qRT-PCR
in
two
giant
bilateral
adrenal
myelolipomas
from
two
untreated
simple
virilizing
CAH
cases
and
in
two
sporadic
adrenal
myelolipomas
.
In
addition
,
the
X-
chromosome
inactivation
pattern
and
CAG
repeat
numbers
in
AR
exon
1
gene
were
evaluated
in
the
4
cases
.
The
MC
2
R
gene
was
overexpressed
in
myelolipomas
from
3
out
of
4
patients
.
AR
overexpression
was
detected
in
2
tumors
:
a
giant
bilateral
myelolipoma
in
a
CAH
patient
and
a
sporadic
case
.
Simultaneous
overexpression
of
AR
and
MC
2
R
genes
was
found
in
two
of
the
cases
.
Interestingly
,
the
bilateral
giant
myelolipoma
associated
with
CAH
that
had
high
androgen
and
ACTH
levels
but
lacked
MC
2
R
and
AR
overexpression
presented
a
significantly
shorter
AR
allele
compared
with
other
tumors
.
In
addition
,
X-
chromosome
inactivation
pattern
analysis
showed
a
polyclonal
origin
in
all
tumors
,
suggesting
a
stimulatory
effect
as
the
trigger
for
tumor
development
.
These
findings
are
the
first
evidence
for
MC
2
R
or
AR
overexpression
in
giant
bilateral
myelolipomas
from
poor
-compliance
CAH
patients
.
Diseases
Validation
Diseases presenting
"tumor development"
symptom
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
primary effusion lymphoma
severe combined immunodeficiency
wolf-hirschhorn syndrome
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