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Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.
[aromatase deficiency]
A
loss
of
function
mutation
of
the
CYP
19
aromatase
gene
leads
to
excess
circulating
androgens
in
the
fetus
and
in
the
mother
,
resulting
in
ambiguous
genitalia
in
the
female
fetus
.
Later
on
,
lack
of
aromatase
is
responsible
for
sexual
infantilism
,
primary
amenorrhea
,
tall
stature
,
and
multicystic
ovaries
,
even
in
preadolescent
girls
.
Up
to
now
,
11
CYP
19
aromatase
point
mutations
and
10
well-documented
cases
have
been
reported
.
In
the
present
case
,
we
are
reporting
the
clinical
and
hormonal
follow-up
,
from
birth
to
7
yr
of
age
,
of
an
affected
girl
with
ambiguous
genitalia
.
Gene
analysis
showed
that
she
was
a
compound
heterozygote
for
two
new
CYP
19
aromatase
point
mutations
.
In
the
father
's
allele
,
there
was
a
consensus
5
'
splice
donor
sequence
mutation
,
GAA
-AAA
at
cDNA
position
bp
655
in
exon
5
,
which
probably
results
in
a
cryptic
donor
site
.
In
the
mother
's
allele
,
there
was
a
base
A
deletion
in
exon
9
(
Delta
A
GLU
412
X
)
,
causing
a
frame
shift
mutation
,
and
a
stop
codon
after
98
bp
(
33
codons
)
downstream
,
altering
the
critical
heme-binding
region
.
Basal
serum
LH
and
FSH
levels
were
high
at
8
d
of
age
(
42
.
9
and
51
.
3
U
/
liter
)
,
26
d
of
age
(
76
.
2
and
119
U
/
liter
)
,
and
60
d
of
age
(
58
.
7
and
150
U
/
liter
,
respectively
)
.
Both
gonadotropins
dropped
dramatically
between
the
second
and
fifth
months
of
age
(
to
1
.
79
and
14
.
9
U
/
liter
)
but
remained
higher
than
in
normal
control
girls
(
0
.
64
and
8
.
5
U
/
liter
,
respectively
)
.
Serum
testosterone
(
T
)
and
androstenedione
(
Delta
(
4
)
A
)
levels
were
high
during
the
first
month
,
but
Delta
(
4
)
A
was
normal
at
2
months
of
age
.
However
,
at
5
months
of
age
,
along
with
significant
decrements
of
serum
LH
and
FSH
levels
and
increments
in
serum
Delta
(
4
)
A
and
T
levels
,
a
large
ovarian
cyst
was
removed
from
each
gonad
.
Relatively
high
levels
of
T
[
27
.
3
ng
/
ml
(
94
.
6
nmol
/
liter
)
;
control
,
34
.
9
ng
/
ml
(
121
nmol
/
liter
)
]
,
but
not
of
estradiol
[
1
.
8
ng
/
ml
(
6
.
6
nmol
/
liter
)
;
control
62
.
9
ng
/
ml
(
231
nmol
/
liter
)
]
,
and
a
high
T
/
estradiol
ratio
[
15
.
2
;
control
<
1
]
were
found
in
the
follicular
fluid
.
Serum
Delta
(
4
)
A
and
T
levels
remained
normal
from
1
-
5
yr
of
age
,
but
they
were
high
at
the
last
visit
(
late
prepuberty
)
.
A
GnRH
test
was
performed
at
3
.
9
,
6
,
and
7
.
1
yr
of
age
.
At
3
.
9
yr
,
a
low
prepubertal
serum
LH
peak
(
2
.
12
U
/
liter
)
was
found
,
but
at
the
older
ages
,
higher
serum
LH
peaks
(
8
.
25
and
22
.
5
U
/
liter
,
respectively
)
were
observed
.
Growth
pattern
and
body
mass
index
were
normal
,
but
after
the
age
of
5
.
2
yr
,
delays
in
bone
age
greater
than
2
yr
were
observed
.
We
concluded
that
:
1
)
these
two
new
CYP
19
aromatase
gene
mutations
are
responsible
for
the
phenotype
of
aromatase
deficiency
;
2
)
in
girls
,
aromatase
deficiency
results
in
a
decrease
of
the
negative
feedback
of
both
serum
LH
and
FSH
,
which
can
be
detected
as
early
as
the
second
week
after
birth
and
persists
up
to
the
sixth
month
of
life
,
and
of
FSH
during
the
rest
of
prepuberty
;
and
3
)
because
large
ovarian
cysts
developed
when
serum
LH
and
FSH
dropped
,
aromatization
of
androgens
might
be
required
to
prevent
formation
of
cystic
ovaries
.
Diseases
Validation
Diseases presenting
"ovarian cyst"
symptom
aromatase deficiency
proteus syndrome
This symptom has already been validated
