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Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
[aromatase deficiency]
cP
450
aromatase
deficiency
provides
clues
for
the
understanding
of
the
role
of
aromatase
in
prepubertal
and
pubertal
human
health
and
disease
.
Placental
aromatization
of
androgens
protects
the
female
fetus
against
the
virilizing
action
of
fetal
androgens
.
After
birth
,
the
dual
effect
of
aromatase
deficiency
,
excessive
androgens
,
and
insufficient
estrogens
is
responsible
for
a
variable
clinical
picture
.
Nineteen
cases
of
aromatase
gene
(
CYP
19
)
deficiency
have
been
reported
.
Phenotype
is
dependent
on
sex
and
age
.
In
newborns
,
aromatase
deficiency
should
be
considered
in
the
etiology
of
46
,
XX
DSD
,
after
ruling
out
congenital
adrenal
hyperplasia
.
In
prepubertal
aromatase
deficient
girls
,
high
levels
of
ovarian
androgens
and
gonadotropins
facilitate
the
formation
of
ovarian
cysts
.
Bone
mineralization
can
be
affected
and
bone
aging
is
delayed
.
In
pubertal
girls
,
there
is
poor
sexual
development
and
abnormal
virilization
.
The
phenotype
may
be
variable
according
to
enzyme
activity
level
.
Insulin
sensitivity
may
be
abnormal
in
both
men
and
women
.
Finally
,
aromatase
might
also
play
a
role
in
the
regulation
of
testicular
cell
mass
in
the
newborn
testis
.
Adequate
interpretation
of
clinical
data
should
lead
to
the
analysis
of
the
CYP
19
gene
for
diagnostic
confirmation
and
implementation
of
appropriate
management
.
Diseases
Validation
Diseases presenting
"excessive androgens"
symptom
aromatase deficiency
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