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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
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated