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Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects.
[congenital adrenal hyperplasia]
Cytochrome
P
450
oxidoreductase
(
POR
)
deficiency
(
PORD
)
is
a
newly
characterized
disorder
.
PORD
is
caused
by
homozygous
or
compound
heterozygous
mutations
in
POR
encoding
an
electron
donor
for
several
microsomal
enzymes
such
as
CYP
21
A
2
,
CYP
17
A
1
,
CYP
19
A
1
,
CYP
51
A
1
,
and
CYP
26
A
1
-
C
1
.
Molecular
defects
of
PORD
include
a
Japanese
founder
mutation
p
.
R
457
H
,
as
well
as
various
missense
,
nonsense
,
frameshift
,
and
splice-site
mutations
and
exonic
deletions
.
PORD
leads
to
a
unique
skeletal
malformations
referred
to
as
Antley-
Bixler
syndrome
,
in
addition
to
46
,
XX
and
46
,
XY
disorders
of
sex
development
,
pubertal
failure
,
adrenal
dysfunction
,
and
maternal
virilization
during
pregnancy
.
Such
clinical
features
are
ascribable
to
impaired
activities
of
the
POR
dependent
microsomal
enzymes
.
PORD
represents
one
form
of
congenital
adrenal
hyperplasia
,
although
it
can
occur
as
a
congenital
malformation
syndrome
and
a
disorder
of
sex
development
.
Phenotypic
severity
of
PORD
is
highly
variable
among
patients
and
only
partly
depends
on
the
residual
activity
of
the
mutant
proteins
.
It
is
possible
that
PORD
remains
undiagnosed
in
several
patients
.
Detailed
hormonal
assessment
and
molecular
analysis
are
useful
for
diagnosis
of
PORD
.
Diseases
Validation
Diseases presenting
"although it can occur as a congenital malformation syndrome and a disorder of sex development"
symptom
congenital adrenal hyperplasia
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