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Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
[aromatase deficiency]
Cytochrome
P
450
oxidoreductase
deficiency
is
a
recently
established
autosomal
recessive
disease
characterised
by
ambiguous
genitalia
,
impaired
steroidogenesis
,
and
skeletal
malformations
,
referred
to
as
Antley-
Bixler
syndrome
.
Clinical
manifestations
in
affected
patients
are
highly
variable
.
We
report
on
a
girl
with
P
450
oxidoreductase
deficiency
who
presented
with
virilisation
at
birth
.
There
was
transient
maternal
virilisation
during
pregnancy
as
well
.
She
was
initially
diagnosed
with
congenital
adrenal
hyperplasia
caused
by
21
-
hydroxylase
deficiency
and
/
or
aromatase
deficiency
.
At
1
year
of
age
,
skeletal
abnormalities
suggestive
of
Antley-
Bixler
syndrome
were
detected
.
Molecular
analysis
of
the
fibroblast
growth
factor
receptor
2
(
FGFR
2
)
gene
was
normal
but
POR
gene
analysis
showed
that
she
was
homozygous
for
an
R
457
H
missense
mutation
.
The
diagnosis
,
P
450
oxidoreductase
deficiency
,
was
confirmed
.
Results
of
her
endocrine
studies
and
urinary
steroid
profiling
are
also
presented
.
Diseases
Validation
Diseases presenting
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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