Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The role of imaging in congenital adrenal hyperplasia.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
is
an
autossomic
recessive
disorder
caused
by
impaired
steroidogenesis
.
Patients
with
CAH
may
present
adrenal
insufficiency
with
or
without
salt-wasting
,
as
well
as
various
degrees
of
virilization
and
fertility
impairment
,
carrying
a
high
incidence
of
testicular
adrenal
rest
tumors
and
increased
incidence
of
adrenal
tumors
.
The
diagnosis
of
CAH
is
made
based
on
the
adrenocortical
profile
hormonal
evaluation
and
genotyping
,
in
selected
cases
.
Follow-up
is
mainly
based
on
hormonal
and
clinical
evaluation
.
Utility
of
imaging
in
this
clinical
setting
may
be
helpful
for
the
diagnosis
,
management
,
and
follow-up
of
the
patients
,
although
recommendations
according
to
most
guidelines
are
weak
when
present
.
Thus
,
the
authors
aimed
to
conduct
a
narrative
synthesis
of
how
imaging
can
help
in
the
management
of
patients
with
CAH
,
especially
focused
on
genitography
,
ultrasonography
,
computed
tomography
,
and
magnetic
resonance
imaging
.
Diseases
Validation
Diseases presenting
"adrenal insufficiency"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
familial hypocalciuric hypercalcemia
neonatal adrenoleukodystrophy
scrub typhus
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated