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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
"weight loss"
symptom
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
cholangiocarcinoma
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
focal myositis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
krabbe disease
oligodontia
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
This symptom has already been validated
