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An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.
[cushing syndrome]
Cushing
's
syndrome
,
which
is
characterized
by
excessive
circulating
glucocorticoid
concentrations
,
may
be
due
to
ACTH-dependent
or
-
independent
causes
that
include
anterior
pituitary
and
adrenal
cortical
tumors
,
respectively
.
ACTH
secretion
is
stimulated
by
CRH
,
and
we
report
a
mouse
model
for
Cushing
's
syndrome
due
to
an
N-
ethyl-
N-
nitrosourea
(
ENU
)
induced
Crh
mutation
at
-
120
bp
of
the
promoter
region
,
which
significantly
increased
luciferase
reporter
activity
and
was
thus
a
gain-of-function
mutation
.
Crh
(
-
120
/
+
)
mice
,
when
compared
with
wild-
type
littermates
,
had
obesity
,
muscle
wasting
,
thin
skin
,
hair
loss
,
and
elevated
plasma
and
urinary
concentrations
of
corticosterone
.
In
addition
,
Crh
(
-
120
/
+
)
mice
had
hyperglycemia
,
hyperfructosaminemia
,
hyperinsulinemia
,
hypercholesterolemia
,
hypertriglyceridemia
,
and
hyperleptinemia
but
normal
adiponectin
.
Crh
(
-
120
/
+
)
mice
also
had
low
bone
mineral
density
,
hypercalcemia
,
hypercalciuria
,
and
decreased
concentrations
of
plasma
PTH
and
osteocalcin
.
Bone
histomorphometry
revealed
Crh
(
-
120
/
+
)
mice
to
have
significant
reductions
in
mineralizing
surface
area
,
mineral
apposition
,
bone
formation
rates
,
osteoblast
number
,
and
the
percentage
of
corticoendosteal
bone
covered
by
osteoblasts
,
which
was
accompanied
by
an
increase
in
adipocytes
in
the
bone
marrow
.
Thus
,
a
mouse
model
for
Cushing
's
syndrome
has
been
established
,
and
this
will
help
in
further
elucidating
the
pathophysiological
effects
of
glucocorticoid
excess
and
in
evaluating
treatments
for
corticosteroid-induced
osteoporosis
.
Diseases
Validation
Diseases presenting
"osteoporosis"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
cutaneous mastocytosis
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
inclusion body myositis
kallmann syndrome
oligodontia
pyomyositis
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated