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A case of female pseudohermaphroditism caused by aromatase deficiency.
[aromatase deficiency]
Female
pseudohermaphroditism
is
caused
by
several
etiologies
.
Here
we
report
a
case
of
aromatase
deficiency
who
showed
ambiguous
genitalia
and
maternal
virilization
during
pregnancy
.
The
mother
had
noticed
her
own
virilization
from
16
wk
of
gestation
without
androgen
exposure
and
had
low
urinary
estriol
levels
(
5
~
10
μg
/
ml
at
35
wk
of
gestation
)
.
At
birth
,
the
patient
presented
severe
virilization
(
Prader
V
)
,
and
was
assigned
as
a
male
with
a
micropenis
and
unpalpable
testes
but
the
patient
had
a
normal
female
karyotype
and
a
uterus
and
cystic
ovaries
found
by
magnetic
resonance
imaging
.
The
patient
had
a
increase
in
serum
17
α-hydroxy
progesterone
levels
(
basal
4
.
9
→
37
ng
/
ml
after
a
single
0
.
25
mg
/
m
(
2
)
infusion
of
ACTH
)
,
but
the
increase
in
adrenal
androgen
was
not
sufficient
to
virilize
the
external
genitalia
.
Dehydroepiandrosterone
,
17
α-hydroxy
pregnenolone
and
deoxycorticosterone
were
within
the
normal
ranges
.
These
findings
suggested
a
diagnosis
of
nonadrenal
female
pseudohermaphroditism
.
From
the
clinical
features
and
biochemical
data
,
we
endocrinologically
diagnosed
her
as
having
an
aromatase
deficiency
.
The
aromatase
gene
is
now
under
investigation
for
definite
diagnosis
.
We
finally
agreed
that
aromatase
deficiency
should
be
suspected
when
both
the
mother
and
the
newborn
have
been
virilized
.
