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Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet.
[pendred syndrome]
Mutations
in
the
SLC
26
A
4
gene
,
coding
for
the
anion
transporter
pendrin
,
are
responsible
for
Pendred
syndrome
,
characterized
by
congenital
sensorineural
deafness
and
dyshormonogenic
goiter
.
The
physiological
role
of
pendrin
in
the
thyroid
is
still
unclear
and
the
lack
of
a
thyroid
phenotype
in
some
patients
with
SLC
26
A
4
mutations
and
in
Slc
26
a
4
(
-
/
-
)
mice
indicate
the
existence
of
environmental
or
individual
modifiers
able
to
compensate
for
pendrin
inactivation
in
the
thyroid
.
Since
pendrin
can
transport
iodide
in
vitro
,
variations
in
iodide
supply
have
been
claimed
to
account
for
the
thyroid
phenotype
associated
with
pendrin
defects
.
The
Slc
26
a
4
(
-
/
-
)
mouse
model
was
used
to
test
the
hypothesis
that
iodide
supply
may
influence
the
penetrance
and
expressivity
of
SLC
26
A
4
mutations
.
Slc
26
a
4
(
-
/
-
)
and
(
+
/
+
)
mice
were
fed
up
to
6
months
on
a
standard
or
low
iodine
diet
and
were
evaluated
for
thyroid
structural
abnormalities
or
biochemical
hypothyroidism
.
A
27
-
fold
iodide
restriction
induced
similar
modifications
in
thyroid
histology
,
but
no
differences
in
thyroid
size
,
T
4
or
TSH
levels
were
observed
between
between
Slc
26
a
4
(
-
/
-
)
and
(
+
/
+
)
mice
,
either
in
standard
conditions
and
during
iodine
restriction
.
Iodide
restriction
is
not
able
to
induce
a
thyroid
phenotype
in
Slc
26
a
4
(
-
/
-
)
mice
.
These
experimental
data
,
together
with
those
coming
from
a
review
of
familial
Pendred
cases
leaving
in
regions
either
with
low
or
sufficient
iodide
supply
,
support
the
idea
that
the
expression
of
thyroid
phenotype
in
Pendred
syndrome
is
more
powerfully
influenced
by
individual
factors
than
by
dietary
iodide
.
Diseases
Validation
Diseases presenting
"were evaluated for thyroid structural abnormalities or biochemical hypothyroidism"
symptom
pendred syndrome
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