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Aromatase research and its clinical significance.
[aromatase deficiency]
Aromatase
is
a
member
of
the
cytochrome
P
450
superfamily
that
catalyzes
the
conversion
of
androgens
(
C
(
19
)
)
,
namely
testosterone
and
androstenedione
,
into
oestrogens
(
C
(
18
)
)
,
oestradiol
,
and
oestrone
,
respectively
.
The
enzyme
is
active
in
various
tissues
in
both
females
and
males
,
thus
oestrogens
are
produced
not
only
in
gonads
but
also
in
extra
-
gonadal
localizations
such
as
brain
,
adipose
tissue
,
breast
,
skin
,
and
bone
.
Aromatase
gene
CYP
19
A
1
located
on
chromosome
15
comprises
nine
coding
exons
and
a
number
of
alternative
non-coding
first
exons
that
regulate
tissue-
specific
expression
.
Studies
on
local
regulation
of
aromatase
expression
and
activity
are
important
for
understanding
processes
such
as
growth
of
oestrogen-dependent
breast
cancer
.
Rare
clinical
conditions
of
aromatase
deficiency
and
excess
have
revealed
some
new
and
unexpected
oestrogen
functions
in
metabolism
and
bone
health
in
both
women
and
men
.
They
were
further
studied
using
transgenic
animal
models
such
as
aromatase
knockout
mice
(
ArKO
)
or
(
AROM
+
)
mice
overexpressing
human
aromatase
.
Research
on
aromatase
was
important
for
its
practical
outcome
as
it
contributed
to
the
development
of
aromatase
inhibitors
(
AIs
)
,
an
effective
and
safe
group
of
drugs
for
the
first
-line
endocrine
therapy
of
breast
cancer
.
Further
studies
are
needed
to
establish
AIs
application
in
other
oestrogen-dependent
conditions
,
to
overcome
the
resistance
in
breast
cancer
patients
,
and
to
develop
tissue-
specific
selective
inhibitors
.
(
Pol
J
Endocrinol
2010
;
61
(
1
)
:
126
-
134
)
.
Diseases
Validation
Diseases presenting
"men"
symptom
aromatase deficiency
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