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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
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated