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[Estrogen resistance and aromatase deficiency in humans].
[aromatase deficiency]
The
primordial
role
of
estrogens
in
female
reproductive
function
is
well
known
.
The
recent
production
of
transgenic
mice
deficient
in
estrogen
receptors
(
ERKO
)
or
in
aromatase
(
ArKO
)
and
the
discovery
in
man
of
inactivating
mutations
of
the
corresponding
genes
(
ER
)
have
contributed
to
the
understanding
of
the
role
of
estrogens
in
metabolic
processes
in
female
as
well
as
male
.
To
date
8
well
documented
cases
(
5
women
and
3
men
)
of
congenital
deficiencies
in
estrogens
have
been
reported
.
As
mice
deficient
in
ERa
had
been
previously
described
,
these
cases
definitely
proved
that
estrogen
absence
was
compatible
with
survival
and
disproved
the
"
lethality
concept
"
previously
held
because
the
role
of
estrogens
in
implantation
and
gestation
maintenance
.
ERKO
mice
are
phenotypically
normal
though
sterile
,
but
their
bone
density
is
lower
(
20
-
25
%
)
than
that
of
controls
.
Similarly
,
men
with
no
aromatase
or
no
ER
display
continuous
growth
,
osteoporosis
and
also
(
but
not
necessarily
)
alterations
in
testicular
functions
.
How
much
do
primordial
functions
such
as
bone
development
,
control
of
gonadotrophin
secretion
and
lipid
metabolism
depend
on
estrogens
?
These
interrogations
,
elegantly
clarified
following
testosterone
and
estradiol
treatment
in
an
aromatase
deficient
man
are
considered
in
this
present
synthesis
.
Diseases
Validation
Diseases presenting
"well documented cases"
symptom
aromatase deficiency
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