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Triple A syndrome: genotype-phenotype assessment.
[triple a syndrome]
The
triple
A
or
Allgrove
syndrome
is
an
autosomal-recessive
disease
(
MIM
*
231550
)
characterized
by
the
triad
of
achalasia
,
alacrima
and
adrenocorticotropic
hormone
(
ACTH
)
-
resistant
adrenal
insufficiency
.
Associated
features
of
the
syndrome
are
neurological
and
dermatological
abnormalities
.
Until
the
discovery
of
the
AAAS
gene
as
the
responsible
gene
in
triple
A
syndrome
,
the
diagnosis
was
based
on
characteristic
clinical
features
.
Here
we
present
the
clinical
and
molecular
genetic
data
which
demonstrated
the
marked
phenotypic
variability
in
three
unrelated
patients
with
triple
A
syndrome
.
The
final
diagnosis
of
triple
A
syndrome
was
confirmed
by
molecular
analysis
.
In
one
patient
with
isolated
achalasia
,
the
diagnosis
of
triple
A
syndrome
could
only
be
made
on
the
basis
of
the
molecular
genetic
analysis
of
the
AAAS
gene
.
We
therefore
suggest
that
the
diagnosis
of
triple
A
syndrome
should
be
considered
in
patients
who
exhibit
only
one
or
two
of
the
main
symptoms
(
i
.
e
.
alacrima
,
achalasia
or
adrenal
insufficiency
)
.
These
patients
require
careful
neurological
investigation
,
and
mutation
analysis
of
the
AAAS
gene
should
be
performed
.
Diseases
Validation
Diseases presenting
"alacrima and adrenocorticotropic hormone"
symptom
triple a syndrome
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