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A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.
[pendred syndrome]
Biallelic
mutations
of
SLC
26
A
4
(
encoding
pendrin
)
cause
Pendred
syndrome
(
PS
)
,
an
autosomal
recessive
genetic
disorder
with
deafness
and
goiter
.
The
mechanism
underlying
the
development
of
the
goiter
is
unknown
.
Here
,
we
report
clinical
and
molecular
findings
of
a
patient
with
PS
.
This
27
-
year
-old
woman
was
born
to
nonconsanguineous
healthy
parents
.
She
was
seen
at
our
hospital
due
to
hearing
loss
at
age
3
years
,
and
subsequently
developed
goiter
at
age
10
years
.
From
age
15
years
,
her
thyroid
gland
showed
progressive
enlargement
accompanied
by
elevation
of
serum
thyroglobulin
reaching
10
-
fold
the
normal
amount
.
Thyroidal
iodine
uptake
was
also
increased
during
goiter
progression
(
(
123
)
I
uptake
at
24
hr
:
20
.
2
%
at
age
17
years
;
69
.
4
%
at
age
24
years
;
reference
,
8
-
40
)
,
while
serum
thyrotropin
(
TSH
)
levels
and
iodine
organification
(
examined
by
the
perchrolate
or
thiocyanate
discharge
test
)
remained
normal
.
We
sequenced
SLC
26
A
4
using
standard
PCR-based
technique
,
and
found
one
novel
(
p
.
T
537
P
)
and
one
recurrent
(
p
.
H
723
R
)
mutations
in
a
compound
heterozygous
state
.
Expression
experiments
using
COS
-
7
cells
showed
that
the
two
mutants
were
entrapped
in
the
endoplasmic
reticulum
and
were
poorly
localized
at
the
plasma
membrane
.
In
summary
,
a
molecularly
confirmed
PS
patient
showed
goiter
progression
accompanied
by
elevated
serum
thyroglobulin
and
increased
thyroidal
iodine
uptake
,
but
normal
serum
TSH
levels
and
normal
iodine
organification
.
This
implies
that
some
pendrin
mutations
may
involve
direct
stimulation
of
thyroid
cell
proliferation
with
no
TSH
hyperstimulation
and
no
iodine
organification
defect
.
Diseases
Validation
Diseases presenting
"nonconsanguineous healthy parents"
symptom
pendred syndrome
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