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Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.
[triple a syndrome]
Primary
growth
hormone
insensitivity
(
GHI
)
and
triple
A
syndrome
are
rare
autosomal
recessive
disorders
.
The
patient
,
a
12
-
year
-old
boy
from
consanguineous
parents
,
was
referred
for
short
stature
at
the
age
of
7
years
(
height
:
-
5
.
4
SD
score
)
.
He
had
low
serum
insulin
-like
growth
factor
I
(
IGF-
I
)
and
IGF
binding
protein
3
and
a
blunted
IGF-
I
response
to
recombinant
human
GH
;
molecular
analysis
of
the
GH
receptor
disclosed
a
homozygous
A
(
-
1
)
→
G
(
-
1
)
at
the
5
'
pseudoexon
6
Ψ
splice
site
.
Recombinant
IGF-
I
therapy
(
mecasermin
,
Increlex
®
,
twice
daily
)
initiated
at
the
age
of
9
years
resulted
in
an
increase
of
height
velocity
(
HV
)
from
4
.
0
to
9
.
5
cm
/
year
.
At
the
age
of
10
.
5
years
,
he
presented
with
asthenia
,
anorexia
,
weight
loss
,
a
decrease
in
HV
and
very
low
cortisol
levels
;
adrenal
insufficiency
was
confirmed
and
glucocorticoid
therapy
was
initiated
.
Subsequent
peripheral
motor
neuropathy
,
achalasia
and
alacrima
raised
the
suspicion
of
triple
A
syndrome
,
which
was
confirmed
by
the
presence
of
a
homozygous
R
194
X
mutation
in
the
AAAS
gene
.
T
his
unusual
combination
of
diseases
,
to
our
knowledge
,
has
not
been
reported
to
date
.
Although
the
patient
responded
to
recombinant
IGF-
I
therapy
for
GHI
,
we
hypothesize
that
the
treatment
could
have
had
an
inhibitory
effect
on
11
β-hydroxysteroid
dehydrogenase
type
1
activity
,
thereby
reducing
the
availability
of
cortisol
and
precipitating
adrenal
insufficiency
.
Diseases
Validation
Diseases presenting
"peripheral motor neuropathy"
symptom
triple a syndrome
This symptom has already been validated
