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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
"high incidence"
symptom
achondroplasia
acute rheumatic fever
alexander disease
alpha-thalassemia
aniridia
coats disease
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
legionellosis
monosomy 21
neonatal adrenoleukodystrophy
papillon-lefèvre syndrome
scrub typhus
typhoid
von hippel-lindau disease
werner syndrome
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