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Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies.
[aromatase deficiency]
Aromatase
deficiency
due
to
a
CYP
19
A
1
defect
leads
to
fetoplacental
inability
to
convert
androgens
into
estrogens
.
Pregnant
mothers
experience
virilization
caused
by
excess
nonaromatized
fetal
androgens
entering
the
maternal
circulation
.
Biochemical
normalization
is
believed
to
take
place
shortly
after
delivery
.
We
report
prolonged
postnatal
hyperandrogenism
and
enlarged
multicystic
ovaries
in
the
mother
of
an
affected
46
,
XX
infant
and
hypothesize
a
possible
pathogenetic
mechanism
.
We
investigated
the
mother
on
days
12
and
20
after
delivery
.
FSH
,
LH
,
T
,
estradiol
(
E
2
)
,
androstenedione
(
A
)
,
dehydroepiandrosterone-sulfate
(
DHEA-S
)
,
and
human
chorionic
gonadotropin
(
hCG
)
plasma
levels
were
obtained
,
and
ovarian
ultrasonography
and
magnetic
resonance
imaging
were
performed
.
T
(
1040
ng
/
dL
)
,
A
(
6940
ng
/
dL
)
,
and
E
2
(
2787
pg
/
mL
)
levels
were
markedly
elevated
on
day
12
after
delivery
,
whereas
LH
and
FSH
were
suppressed
(
<
0
.
1
IU
/
L
)
.
On
day
20
,
all
hormones
had
decreased
significantly
;
however
,
T
,
A
,
and
E
2
still
remained
3
.
5
-
,
2
.
2
-
,
and
1
.
4
-
fold
elevated
,
respectively
,
as
compared
to
upper
reference
values
.
hCG
(
18
.
9
U
/
L
)
was
still
increased
.
DHEA-S
was
normal
on
both
occasions
.
Sonography
and
magnetic
resonance
imaging
revealed
enlarged
ovaries
,
with
several
cysts
up
to
4
cm
.
There
was
no
history
of
polycystic
ovary
syndrome
.
We
hypothesize
that
persistent
ovarian
overstimulation
by
hCG
had
occurred
in
the
mother
during
pregnancy
,
leading
to
prolonged
autonomous
excess
production
of
androgens
during
the
first
weeks
after
delivery
.
As
a
causative
mechanism
,
we
propose
that
gestational
hyperandrogenism
and
hypoestrogenism
reduced
inhibition
of
placental
GnRH
and
hCG
secretion
by
progesterone
,
resulting
in
persistently
elevated
hCG
.
Diseases
Validation
Diseases presenting
"prolonged autonomous excess production of androgens during the first weeks after delivery"
symptom
aromatase deficiency
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