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Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil.
[congenital adrenal hyperplasia]
Congenital
Adrenal
Hyperplasia
(
CAH
)
is
an
endocrine
disorder
characterized
by
enzymatic
deficiency
in
adrenal
steroidogenesis
,
leading
to
adrenal
insufficiency
and
hyperandrogenism
.
Patients
need
continuous
hormone
replacement
therapy
,
but
adequate
control
has
proven
challenging
,
exposing
patients
to
undesirable
consequences
of
both
disease
and
treatment
.
To
evaluate
the
health
related
quality
of
life
(
HRQoL
)
of
children
and
adolescents
with
CAH
due
to
21
-
hydroxylase
deficiency
.
In
an
analytical
study
,
generic
questionnaires
,
validated
and
translated
versions
,
Pediatric
Quality
of
Life
Inventory
4
.
0
(
for
self-assessment
of
patients
)
and
Child
Health
Questionnaire
-
PF
50
(
for
parents
)
were
applied
and
mean
scores
were
analyzed
with
Student
's
t-test
.
We
included
25
patients
(
19
female
)
with
classical
CAH
(
14
salt
wasting
/
11
simple
virilizing
)
,
mean
age
±
standard
deviation
(
SD
)
of
11
.
4
±
3
.
6
years
(
5
-
17
.
9
)
,
and
their
parents
.
Self-assessment
of
HRQOL
showed
decrease
in
mean
scores
:
overall
(
67
.
8
±
15
.
5
vs
.
88
.
9
±
7
.
4
,
p
value
=
0
.
015
)
and
in
the
physical
(
75
.
2
±
15
.
0
vs
.
95
.
9
±
5
.
8
,
p
value
=
0
.
014
)
and
psychosocial
(
63
.
9
±
17
.
8
vs
.
85
.
0
±
9
.
6
,
p
value
=
0
.
023
)
dimensions
of
patients
,
compared
to
healthy
controls
(
previously
published
national
data
on
children
and
adolescents
)
.
The
assessment
of
the
parent
's
view
was
concordant
,
also
showing
losses
in
the
physical
(
43
.
7
±
8
.
0
vs
.
55
.
1
±
3
.
6
,
p
value
=
0
.
013
)
and
psychosocial
(
41
.
9
±
9
.
7
vs
.
53
.
0
±
7
.
0
,
p
value
=
0
.
025
)
dimensions
.
The
comparison
of
HRQOL
between
subgroups
1
)
males
versus
females
and
2
)
salt-wasting
versus
simple
virilizing
showed
no
significant
differences
.
There
seems
to
be
a
loss
of
HRQOL
in
children
and
adolescents
with
classical
CAH
.
The
self-assessment
was
concordant
in
key
areas
with
the
assessment
made
by
their
parents
.
No
differences
were
observed
between
genders
or
clinical
presentation
of
the
disease
.
Diseases
Validation
Diseases presenting
"adolescents"
symptom
congenital adrenal hyperplasia
familial hypocalciuric hypercalcemia
hirschsprung disease
trochlear dysplasia
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