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Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.
[pendred syndrome]
Goiter
and
deafness
can
be
associated
in
some
genetic
syndromes
,
e
.
g
.
Pendred
syndrome
(
PS
)
and
resistance
to
thyroid
hormone
(
RTH
)
.
PS
is
an
autosomal
recessive
disorder
characterized
by
goiter
and
sensorineural
hearing
impairment
with
an
enlarged
vestibular
aqueduct
bilaterally
.
RTH
is
an
autosomal
dominant
condition
of
reduced
tissue
sensitivity
to
thyroid
hormone
in
which
goiter
is
very
frequent
and
hearing
loss
occurs
in
about
20
%
of
patients
.
OBJECTIVE
,
PATIENTS
,
AND
DESIGN
:
The
objective
of
this
study
was
to
identify
the
cause
of
goiter
and
deafness
in
two
sisters
born
to
healthy
unrelated
parents
.
We
present
their
history
,
clinical
presentation
,
and
follow-up
and
report
the
results
of
molecular
genetic
investigations
.
The
elder
sister
had
an
elevated
TSH
level
at
newborn
screening
followed
by
subclinical
hypothyroidism
,
childhood-onset
goiter
,
and
bilateral
progressive
sensorineural
hearing
impairment
with
enlarged
vestibular
aqueducts
,
consistent
with
a
diagnosis
of
PS
.
Her
younger
sister
had
congenital
goiter
,
elevated
free
T
3
and
free
T
4
concentrations
with
unsuppressed
TSH
,
sinus
tachycardia
,
and
bilateral
progressive
sensorineural
hearing
impairment
with
enlarged
vestibular
aqueducts
.
This
clinical
presentation
was
consistent
with
a
diagnosis
of
RTH
,
in
which
,
however
,
inner
ear
malformations
are
uncommon
.
Interestingly
,
molecular
genetic
testing
showed
that
,
whereas
the
elder
sister
is
affected
by
PS
,
the
younger
sister
has
both
PS
(
due
to
compound
heterozygous
SLC
26
A
4
mutations
)
and
RTH
(
due
to
a
novel
de
novo
heterozygous
THRB
mutation
)
.
This
is
the
first
report
of
the
cooccurrence
,
in
the
same
individual
,
of
PS
and
RTH
,
two
genetic
syndromes
both
associated
with
goiter
and
hearing
impairment
.
Diseases
Validation
Diseases presenting
"congenital goiter"
symptom
pendred syndrome
This symptom has already been validated