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No evidence of mutations in the P450 aromatase gene in patients with polycystic ovary syndrome.
[aromatase deficiency]
Etiology
and
inheritance
pattern
in
polycystic
ovary
syndrome
(
PCOS
)
remain
uncertain
.
Granulosa
cells
from
follicles
of
women
with
PCOS
have
little
,
if
any
,
aromatase
(
encoded
by
the
CYP
19
gene
)
activity
;
follicles
contain
low
levels
of
estradiol
,
P
450
arom
mRNA
and
aromatase
stimulating
bioactivity
.
Mice
with
targeted
disruption
of
the
CYP
19
gene
present
cystic
follicles
.
It
has
been
proposed
that
chronic
exposure
to
high
levels
of
LH
,
because
of
aromatase
deficiency
,
determines
the
development
of
ovarian
cysts
.
Herein
,
we
investigated
if
mutations
in
the
CYP
19
gene
and
/
or
its
ovary
promoter
are
causal
in
patients
with
PCOS
.
Twenty
-
five
patients
with
PCOS
and
50
control
women
were
studied
.
PCR
analysis
of
genomic
DNA
and
complete
sequence
of
all
exons
of
the
aromatase
gene
and
its
ovary
promoter
were
performed
.
No
heterozygous
or
homozygous
mutant
alleles
were
present
in
any
of
the
patients
studied
.
In
the
population
studied
,
mutations
of
the
P
450
arom
gene
or
its
promoter
are
not
the
cause
of
PCOS
.
However
,
these
findings
do
not
preclude
the
possible
importance
of
an
aromatase
disorder
in
PCOS
etiology
.
Variations
in
aromatase
complex
function
could
play
a
role
in
PCOS
etiology
,
but
the
determinants
of
such
variations
might
be
located
in
other
genes
.
Diseases
Validation
Diseases presenting
"chronic exposure"
symptom
allergic bronchopulmonary aspergillosis
aromatase deficiency
papillon-lefèvre syndrome
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