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Recognizing rare disorders: aromatase deficiency.
[aromatase deficiency]
Aromatase
deficiency
is
rare
in
humans
.
Affected
individuals
can
not
synthesize
endogenous
estrogens
.
Aromatase
is
the
enzyme
that
catalyzes
conversion
of
androgens
into
estrogens
,
and
if
aromatase
is
nonfunctional
because
of
an
inactivating
mutation
,
estrogen
synthesis
can
not
occur
.
If
the
fetus
lacks
aromatase
activity
,
dehydroepiandrosterone
sulfate
produced
by
the
fetal
adrenal
glands
can
not
be
converted
to
estrogen
by
the
placenta
,
so
is
converted
to
testosterone
peripherally
and
results
in
virilization
of
both
fetus
and
mother
.
Virilization
manifests
as
pseudohermaphroditism
in
female
infants
,
with
hirsutism
and
acne
in
the
mother
;
the
maternal
indicators
resolve
following
delivery
.
To
date
,
only
seven
males
and
seven
females
with
aromatase
deficiency
have
been
reported
.
Affected
females
are
typically
diagnosed
at
birth
because
of
the
pseudohermaphroditism
.
Cystic
ovaries
and
delayed
bone
maturation
can
occur
during
childhood
and
adolescence
in
these
girls
,
who
present
at
puberty
with
primary
amenorrhea
,
failure
of
breast
development
,
virilization
,
and
hypergonadotrophic
hypogonadism
.
Affected
males
,
on
the
other
hand
,
do
not
present
with
obvious
defects
at
birth
,
so
are
diagnosed
much
later
in
life
,
presenting
with
clinical
symptoms
,
which
include
tall
stature
,
delayed
skeletal
maturation
,
delayed
epiphyseal
closure
,
bone
pain
,
eunuchoid
body
proportions
and
excess
adiposity
.
Estrogen
replacement
therapy
reverses
the
symptoms
in
male
and
female
patients
.
Diseases
Validation
Diseases presenting
"delayed bone maturation can occur during childhood and adolescence in these girls"
symptom
aromatase deficiency
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