Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
due
to
21
-
hydroxylase
deficiency
is
caused
by
mutations
in
the
CYP
21
A
2
gene
.
The
residual
enzyme
activity
is
strongly
associated
with
the
phenotype
.
We
describe
a
rare
case
of
CAH
with
a
rare
CYP
21
A
2
mutation
.
The
patient
was
a
one
-
year
-old
Japanese
boy
.
At
16
days
old
,
he
was
referred
to
our
hospital
because
of
elevated
serum
17
-
OH
-progesterone
(
17
-
OHP
)
levels
in
neonatal
screening
.
The
compound
heterozygous
mutations
(
IVS
2
-
13
A
/
C
>
G
,
and
p
.
E
431
K
)
in
CYP
21
A
2
were
identified
at
2
months
old
,
and
we
diagnosed
non-classical
CAH
,
since
he
did
not
have
significant
physical
signs
(
pigmentation
and
salt-wasting
)
.
However
,
his
body
weight
decreased
,
and
his
serum
17
-
OHP
level
(
99
.
5
ng
/
mL
)
was
elevated
at
3
months
old
.
Steroid
replacement
therapy
was
started
at
3
months
old
.
Our
patient
's
clinical
course
resembled
simple
virilizing
(
SV
)
CAH
,
but
classification
was
difficult
because
the
patient
showed
increased
renin
activity
indicating
an
aldosterone
deficiency
,
and
late
onset
of
symptoms
.
While
the
IVS
2
-
13
A
/
C
>
G
mutation
is
common
in
the
classical
form
of
CAH
,
p
.
E
431
K
is
a
rare
point
mutation
.
Functional
analysis
revealed
that
the
residual
enzyme
activity
of
p
.
E
431
L
was
5
.
08
±
2
.
55
%
for
17
-
OHP
and
4
.
12
±
2
.
37
%
for
progesterone
,
which
is
consistent
with
SV
CAH
.
p
.
E
431
is
localized
in
the
L-
helix
near
the
heme-binding
site
.
The
mutation
might
interfere
with
heme
binding
,
leading
to
deactivation
of
CYP
21
A
2
.
This
report
showed
that
CYP
21
A
2
p
.
E
431
has
an
important
effect
on
enzyme
activity
.
Diseases
Validation
Diseases presenting
"21-hydroxylase deficiency"
symptom
aromatase deficiency
congenital adrenal hyperplasia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom