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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
"pigmentation"
symptom
aniridia
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
oculocutaneous albinism
oral submucous fibrosis
phenylketonuria
proteus syndrome
wiskott-aldrich syndrome
This symptom has already been validated