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Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.
[pendred syndrome]
Thyroid
hormone
is
essential
for
inner
ear
development
and
is
required
for
auditory
system
maturation
.
Human
mutations
in
SLC
26
A
4
lead
to
a
syndromic
form
of
deafness
with
enlargement
of
the
thyroid
gland
(
Pendred
syndrome
)
and
non-syndromic
deafness
(
DFNB
4
)
.
We
describe
mice
with
an
Slc
26
a
4
mutation
,
Slc
26
a
4
(
loop
/
loop
)
,
which
are
profoundly
deaf
but
show
a
normal
sized
thyroid
gland
,
mimicking
non-syndromic
clinical
signs
.
Histological
analysis
of
the
thyroid
gland
revealed
defective
morphology
,
with
a
majority
of
atrophic
microfollicles
,
while
measurable
thyroid
hormone
in
blood
serum
was
within
the
normal
range
.
Characterization
of
the
inner
ear
showed
a
spectrum
of
morphological
and
molecular
defects
consistent
with
inner
ear
pathology
,
as
seen
in
hypothyroidism
or
disrupted
thyroid
hormone
action
.
The
pathological
inner
ear
hallmarks
included
thicker
tectorial
membrane
with
reduced
β-tectorin
protein
expression
,
the
absence
of
BK
channel
expression
of
inner
hair
cells
,
and
reduced
inner
ear
bone
calcification
.
Our
study
demonstrates
that
deafness
in
Slc
26
a
4
(
loop
/
loop
)
mice
correlates
with
thyroid
pathology
,
postulating
that
sub-clinical
thyroid
morphological
defects
may
be
present
in
some
DFNB
4
individuals
with
a
normal
sized
thyroid
gland
.
We
propose
that
insufficient
availability
of
thyroid
hormone
during
inner
ear
development
plays
an
important
role
in
the
mechanism
underlying
deafness
as
a
result
of
SLC
26
A
4
mutations
.
