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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
"single gene"
symptom
aromatase deficiency
cadasil
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
familial mediterranean fever
monosomy 21
oculocutaneous albinism
werner syndrome
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