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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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated