Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The aromatase cytochrome P-450 and its clinical impact.
[aromatase deficiency]
Cytochrome
P-
450
aromatase
(
P
450
arom
)
,
the
key
enzyme
for
estrogen
biosynthesis
,
is
encoded
by
a
single
gene
,
namely
the
CYP
19
gene
,
localized
on
15
q
21
.
2
.
The
human
CYP
19
gene
spans
about
123
kb
with
a
coding
region
of
9
exons
(
about
30
kb
,
exon
II
-exon
X
)
.
Although
there
are
a
number
of
alternative
first
exons
and
nine
different
transcriptional
start
sides
with
individual
promoters
that
permit
tissue-
specific
regulation
of
expression
,
the
protein
expressed
in
these
various
tissue
sites
(
placenta
,
adipose
tissue
,
brain
,
bone
,
ovary
,
etc
.
)
is
the
same
regardless
of
the
promoter
used
.
P
450
arom
catalyzes
the
conversion
of
testosterone
to
estradiol
,
of
androstenedione
to
estrone
,
and
of
16
alpha-hydroxylated
dehydroepiandrosterone
to
estriol
.
As
not
only
androgens
but
also
estrogens
are
of
importance
,
particularly
in
the
male
pubertal
development
,
including
bone
changes
which
were
classically
considered
mostly
androgen
dependent
,
the
features
of
the
aromatase
deficiency
syndrome
in
affected
boys
and
girls
as
well
as
adult
males
and
females
are
discussed
.
There
is
growing
awareness
that
androgens
and
estrogens
have
general
metabolic
roles
that
reach
far
beyond
reproductive
processes
.
For
instance
,
estrogen
has
a
significant
impact
on
carbohydrate
and
lipid
metabolism
,
vascular
function
,
and
arteriosclerosis
.
In
addition
,
extragonadal
estrogen
biosynthesis
plays
an
important
but
often
underestimated
physiological
and
pathophysiological
role
,
for
example
in
breast
cancer
and
endometriosis
.
Based
on
that
knowledge
,
progress
has
been
made
as
far
as
treatment
and
follow-up
of
these
disorders
are
concerned
.
In
addition
,
there
is
a
focus
on
the
treatment
of
children
suffering
from
a
lack
of
P
450
arom
activity
.
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