Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Structural pituitary abnormalities associated with CHARGE syndrome.
[kallmann syndrome]
CHARGE
syndrome
is
a
multisystem
disorder
that
,
in
addition
to
Kallmann
syndrome
/
isolated
hypogonadotrophic
hypogonadism
,
has
been
associated
with
anterior
pituitary
hypoplasia
(
APH
)
.
However
,
structural
abnormalities
such
as
an
ectopic
posterior
pituitary
(
EPP
)
have
not
yet
been
described
in
such
patients
.
The
aims
of
the
study
were
:
1
)
to
describe
the
association
between
CHARGE
syndrome
and
a
structurally
abnormal
pituitary
gland
;
and
2
)
to
investigate
whether
CHD
7
variants
,
which
are
identified
in
65
%
of
CHARGE
patients
,
are
common
in
septo-
optic
dysplasia
/
hypopituitarism
.
We
describe
2
patients
with
features
of
CHARGE
and
EPP
.
CHD
7
was
sequenced
in
these
and
other
patients
with
septo-
optic
dysplasia
/
hypopituitarism
.
EPP
,
APH
,
and
GH
,
TSH
,
and
probable
LH
/
FSH
deficiency
were
present
in
1
patient
,
and
EPP
and
APH
with
GH
,
TSH
,
LH
/
FSH
,
and
ACTH
deficiency
were
present
in
another
patient
,
both
of
whom
had
features
of
CHARGE
syndrome
.
Both
had
variations
in
CHD
7
that
were
novel
and
undetected
in
control
cohorts
or
in
the
international
database
of
CHARGE
patients
,
but
were
also
present
in
their
unaffected
mothers
.
No
CHD
7
variants
were
detected
in
the
patients
with
septo-
optic
dysplasia
/
hypopituitarism
without
additional
CHARGE
features
.
We
report
a
novel
association
between
CHARGE
syndrome
and
structural
abnormalities
of
the
pituitary
gland
in
2
patients
with
variations
in
CHD
7
that
are
of
unknown
significance
.
However
,
CHD
7
mutations
are
an
uncommon
cause
of
septo-
optic
dysplasia
or
hypopituitarism
.
Our
data
suggest
the
need
for
evaluation
of
pituitary
function
/
anatomy
in
patients
with
CHARGE
syndrome
.
Diseases
Validation
Diseases presenting
"optic dysplasia /hypopituitarism"
symptom
kallmann syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom