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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
.