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Of mice and men: the evolving phenotype of aromatase deficiency.
[aromatase deficiency]
We
are
rapidly
becoming
aware
of
the
importance
of
estrogen
in
maintaining
virtually
all
facets
of
male
health
.
In
order
for
estrogens
to
be
synthesized
endogenously
,
the
enzyme
responsible
for
their
synthesis
from
androgens
,
aromatase
,
must
be
functional
.
The
seven
known
men
in
whom
aromatase
is
nonfunctional
all
have
a
mutation
in
either
exon
V
or
IX
of
the
CYP
19
gene
,
which
encodes
aromatase
.
Collectively
,
these
men
are
reported
to
have
undetectable
estrogen
;
normal
to
high
levels
of
testosterone
and
gonadotropins
;
tall
stature
with
delayed
skeletal
maturation
and
epiphyseal
closure
;
osteoporosis
;
impaired
lipid
and
insulin
metabolism
;
and
impaired
reproductive
function
.
The
aromatase
knockout
mouse
presents
with
a
phenotype
that
is
similar
in
many
aspects
and
provides
a
valuable
tool
with
which
to
examine
and
manipulate
the
actions
of
estrogen
.
By
studying
the
naturally
occurring
aromatase-
deficient
humans
,
together
with
studies
of
the
aromatase-knockout
mouse
,
we
are
expanding
our
understanding
of
the
essential
role
of
estrogen
in
male
physiology
.
Diseases
Validation
Diseases presenting
"tall stature"
symptom
achondroplasia
aromatase deficiency
cohen syndrome
This symptom has already been validated
