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Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
[aniridia]
We
herein
report
the
case
of
a
woman
with
aniridia
and
with
a
heterozygous
PAX
6
mutation
.
Pax
6
is
a
transcription
factor
involved
in
the
development
of
several
organs
,
including
the
eye
,
pancreas
and
pituitary
.
The
patient
had
been
diagnosed
with
aniridia
in
childhood
and
was
found
to
have
impaired
glucose
tolerance
with
a
heterozygous
PAX
6
mutation
12
years
prior
to
the
current
admission
.
Hormone
stimulating
tests
revealed
a
slightly
impaired
pituitary
function
,
including
subtle
hypogonadotropic
hypogonadism
and
borderline
growth
hormone
(
GH
)
deficiency
.
The
present
case
is
the
first
report
of
a
slightly
impaired
pituitary
function
in
an
aniridia
patient
with
a
heterozygous
PAX
6
mutation
.