Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Achieving diagnostic certainty in resource-limited settings.
[congenital adrenal hyperplasia]
Disorders
of
sex
development
are
complex
disorders
with
atypical
chromosomal
,
gonadal
or
anatomical
sex
.
Decision
making
in
relation
to
sex
assignment
has
been
perceived
as
extremely
disturbing
and
difficult
for
families
and
healthcare
professionals
.
This
is
mainly
due
to
a
general
paucity
of
information
about
the
condition
,
lack
of
advanced
diagnostic
settings
,
and
an
exaggerated
feeling
of
stigma
and
shame
associated
with
genital
abnormalities
.
Lack
of
accurate
healthcare
information
and
reporting
results
in
poor
knowledge
about
the
exact
incidence
and
impact
of
these
disorders
in
resource-
poor
countries
.
Lack
of
neonatal
screening
facilities
for
congenital
adrenal
hyperplasia
often
results
in
delayed
diagnosis
of
these
disorders
and
perhaps
a
higher
number
of
deaths
,
especially
in
male
children
who
lack
ambiguity
of
genitalia
.
Technically
more
sophisticated
investigations
are
often
not
available
or
affordable
,
posing
further
difficulties
in
establishing
a
diagnosis
.
Limited
resources
also
include
the
lack
of
availability
of
adequately
trained
personal
.
Thus
,
the
establishment
of
the
recommended
and
necessary
multidisciplinary
team
is
often
hard
to
accomplish
in
these
countries
.
This
seriously
compromises
the
ability
to
manage
these
children
properly
.
Finally
,
countries
in
places
like
Southeast
and
Far
East
Asia
and
sub-
Saharan
Africa
are
often
accompanied
with
their
unique
cultural
and
social
issues
,
filled
with
myths
and
misconceptions
,
which
worsens
the
already
complex
situation
.
Thus
,
a
huge
limitation
exists
in
dealing
with
these
children
with
disorders
that
are
complex
to
diagnose
and
manage
,
even
in
countries
with
advanced
and
well-equipped
medical
facilities
.
Diseases
Validation
Diseases presenting
"a general paucity of information about the condition"
symptom
congenital adrenal hyperplasia
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