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Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
is
an
autosomal
recessive
disorder
characterized
by
sensorineural
deafness
,
a
partial
defect
in
iodide
organification
,
and
dyshormonogenetic
goiter
.
Several
cases
of
Pendred
syndrome
with
follicular
thyroid
carcinomas
were
reported
previously
.
Here
we
report
identical
twin
patients
with
Pendred
syndrome
,
who
had
thyroid
tumors
with
distinct
histopathological
findings
.
34
-
year
-old
identical
twins
with
congenital
deafness
and
goiter
were
referred
to
our
hospital
with
complaint
of
neck
discomfort
.
The
genetic
testing
showed
that
these
twin
patients
were
compound
heterozygotes
carrying
the
same
two
mutations
in
the
Pendred
's
syndrome
(
PDS
/
SLC
26
A
4
)
gene
(
c
2168
A
>
G
and
ins
2110
GCTGG
)
,
which
confirmed
the
diagnoses
of
Pendred
syndrome
.
They
underwent
thyroidectomy
.
Histological
examination
of
the
thyroid
tumors
resected
from
these
twin
patients
revealed
follicular
variant
of
papillary
thyroid
carcinoma
,
and
diffuse
and
nodular
goiter
without
any
evidence
of
malignancy
,
respectively
.
To
our
knowledge
,
the
former
is
the
first
case
of
follicular
variant
of
papillary
thyroid
carcinoma
in
Pendred
Syndrome
.
Diseases
Validation
Diseases presenting
"and diffuse and nodular goiter without any evidence of malignancy"
symptom
pendred syndrome
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