Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
[congenital adrenal hyperplasia]
Nonclassical
congenital
adrenal
hyperplasia
(
NC-
CAH
)
is
caused
by
mutations
of
the
CYP
21
A
2
gene
.
The
clinical
manifestations
and
hormonal
derangements
of
NC-
CAH
are
quite
variable
.
(
i
)
To
define
the
phenotype
and
its
relation
to
genotype
according
to
gender
and
age
and
(
ii
)
to
evaluate
the
validity
of
currently
applied
hormonal
criteria
for
establishing
the
diagnosis
of
NC-
CAH
.
The
clinical
,
hormonal
and
molecular
data
of
280
subjects
(
235
female
)
with
NC-
CAH
and
a
median
age
of
17
·
6
years
were
analysed
.
CYP
21
A
2
genotyping
was
performed
in
all
subjects
.
The
majority
of
females
aged
less
than
8
years
presented
with
premature
pubarche
(
88
·
3
%
)
,
while
those
older
than
8
presented
with
a
polycystic
ovary
-like
phenotype
(
63
·
2
%
)
.
A
total
of
7
·
7
%
of
the
females
and
51
·
1
%
of
the
males
were
asymptomatic
at
the
time
of
diagnosis
.
In
the
total
group
,
50
·
4
%
of
the
subjects
were
compound
heterozygotes
for
one
classical
(
C
)
and
one
nonclassical
(
NC
)
mutation
,
while
46
%
of
the
alleles
studied
carried
the
p
.
V
281
L
mutation
.
Basal
17
OHP
values
were
below
6
nm
(
2
ng
/
ml
)
in
2
·
1
%
of
the
subjects
with
NC-
CAH
,
but
none
had
peak
17
OHP
values
post-
ACTH
lower
than
30
nm
(
10
ng
/
ml
)
.
NC-
CAH
has
a
variable
phenotype
depending
on
the
age
,
gender
and
the
presence
of
a
classical
mutation
.
A
peak
cut-off
value
of
17
OHP
post-
ACTH
lower
than
30
nm
excludes
the
diagnosis
of
NC-
CAH
,
whereas
basal
17
OHP
<
6
nm
may
represent
a
false-negative
result
.
A
significant
number
of
patients
harboured
a
classical
mutation
,
a
finding
which
requires
genotyping
of
the
partner
for
genetic
counselling
.
Diseases
Validation
Diseases presenting
"total group"
symptom
congenital adrenal hyperplasia
neuralgic amyotrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom