Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"rare genetic disease"
symptom
achondroplasia
coats disease
cystinuria
epidermolysis bullosa simplex
fabry disease
kabuki syndrome
lymphangioleiomyomatosis
pendred syndrome
proteus syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom