Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia.
[congenital adrenal hyperplasia]
Objective
Evaluate
the
Neonatal
Screening
Program
(
NSP
)
for
congenital
adrenal
hyperplasia
(
CAH
)
of
the
Department
of
Health
of
the
State
of
Santa
Catarina
(
Secretaria
de
Estado
da
Saúde
de
Santa
Catarina
,
SES
/
SC
)
,
and
provide
information
to
improve
the
program
.
Subjects
and
methods
Descriptive
,
retrospective
study
of
748
,
395
children
screened
between
January
2001
and
December
2010
.
We
analyzed
the
coverage
of
the
NSP-
SES
/
SC
prevalence
of
CAH
,
child
's
age
when
the
first
sample
for
17
-
hydroxyprogesterone
(
17
OHP
)
measurement
was
collected
,
levels
of
17
OHP
,
mean
age
at
treatment
onset
and
main
clinical
manifestations
.
Results
The
NSP-
SES
/
SC
covered
89
%
of
the
live
newborns
in
the
State
.
It
diagnosed
50
cases
of
CAH
,
yielding
an
incidence
of
1
:
14
,
967
.
Mean
age
at
collection
of
the
first
sample
was
7
.
3
days
and
mean
level
of
17
OHP
was
152
.
9
ng
/
mL
.
The
most
frequent
manifestations
were
virilized
genitalia
with
nonpalpable
gonads
,
clitoromegaly
and
genital
hyperpigmentation
.
In
three
girls
,
the
genre
established
at
birth
was
incorrect
.
The
salt-wasting
form
was
present
in
74
%
of
the
cases
.
There
was
no
occurrence
of
shock
or
death
.
Mean
age
at
treatment
onset
in
the
salt-wasting
form
was
17
.
4
days
compared
with
54
.
9
days
in
those
without
the
salt-wasting
form
of
the
disease
.
All
children
were
treated
with
hydrocortisone
,
and
those
with
salt-wasting
CAH
were
also
treated
with
fludrocortisone
.
Conclusions
The
incidence
of
CAH
was
1
case
to
14
,
967
live
newborns
.
Collection
of
the
first
sample
occurred
outside
the
recommended
time
,
resulting
in
delays
in
treatment
onset
.
Diseases
Validation
Diseases presenting
"clitoromegaly"
symptom
aromatase deficiency
congenital adrenal hyperplasia
This symptom has already been validated