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Goiter and hearing impairment: A case of a male patient with Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
is
a
rare
genetic
disease
that
causes
a
disturbance
in
thyroid
hormone
synthesis
,
which
results
in
thyroid
dysfunction
and
the
development
of
goiter
and
sensorineural
deafness
.
The
present
report
describes
the
case
of
a
young
euthyroid
male
,
who
developed
a
large
goiter
and
hearing
impairment
,
despite
no
family
history
of
these
conditions
.
A
left
lobectomy
and
a
subtotal
right
lobectomy
were
performed
,
and
the
patient
was
administered
permanent
hormone
replacement
therapy
with
thyroxine
.
Patients
with
Pendred
syndrome
exhibit
distinct
clinical
features
and
the
mechanisms
associated
with
the
molecular
genetics
of
this
disease
have
been
clarified
.
Thus
,
gene
detection
is
considered
to
be
a
reliable
diagnostic
method
.
Certain
patients
require
surgical
intervention
in
order
to
relieve
the
symptoms
.
Misdiagnosis
can
be
significantly
reduced
by
increasing
the
understanding
of
Pendred
syndrome
.
Diseases
Validation
Diseases presenting
"thyroid hormone synthesis"
symptom
pendred syndrome
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