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[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].
[pendred syndrome]
Pendred
syndrome
(
OMIM
274600
)
is
one
of
the
causes
of
congenital
hypothyroidism
due
to
thyroid
dyshormonogenesis
.
It
is
an
autosomal
recessive
disease
classically
characterized
by
dyshormonogenetic
goitre
and
sensorineural
deafness
.
It
is
caused
by
mutations
in
PDS
/
SLC
26
A
4
gene
encoding
for
pendrin--
an
anion
transporter
,
mostly
expressed
in
the
thyroid
gland
and
the
inner
ear
.
The
thyroid
impairment
in
Pendred
syndrome
develops
only
in
80
%
of
affected
individuals
in
form
of
a
euthyroid
or
hypothyroid
goitre
,
which
is
rarely
present
at
birth
,
when
it
can
be
diagnosed
by
the
neonatal
screening
for
congenital
hypothyroidism
.
The
study
was
aimed
to
identify
patients
with
Pendred
syndrome
among
children
with
congenital
or
postnatal
non-
autoimmune
hypothyroidism
and
subsequently
confirm
the
diagnosis
by
finding
mutations
in
the
PDS
/
SLC
26
A
4
gene
.
W
e
examined
two
-
hundred
thirty-
six
Caucasians
with
hypothyroidism
diagnosed
by
screening
or
developing
later
in
childhood
.
The
clinical
diagnosis
of
Pendred
syndrome
was
based
on
the
laboratory
and
ultrasonographic
signs
of
thyroid
dyshormonogenesis
(
elevated
TSH
,
low
T
4
/
fT
4
,
goitre
or
normal
thyroid
volume
)
in
association
with
sensorineural
hearing
loss
.
In
subjects
clinically
diagnosed
as
Pendred
syndrome
,
we
sequenced
all
21
exons
of
the
PDS
/
SLC
26
A
4
gene
and
their
flanking
intron-exon
junctions
.
Among
236
children
,
nine
fulfilled
the
diagnostic
criteria
of
Pendred
syndrome
.
In
four
,
the
diagnosis
was
confirmed
by
identification
of
mutations
in
the
PDS
/
SLC
26
A
4
gene
,
the
remaining
five
patients
were
concluded
phenocopies
.
Our
study
confirms
the
high
phenotypic
variability
of
thyroid
impairment
in
Pendred
syndrome
and
underlines
the
necessity
of
a
molecular-genetic
investigation
for
establishing
the
diagnosis
in
regard
of
the
great
number
of
phenocopies
.
However
,
from
the
endocrinologist
's
point
of
view
,
the
genetic
testing
is
only
reasonable
in
patients
with
congenital
hypothyroidism
due
to
dyshormonogenesis
in
association
with
sever
to
profound
sensorineural
hearing
loss
.
Diseases
Validation
Diseases presenting
"the inner ear"
symptom
neonatal adrenoleukodystrophy
pendred syndrome
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