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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
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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