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Genetic disorders involving adrenal development.
[triple a syndrome]
The
past
decade
has
seen
significant
advances
in
our
understanding
of
the
genetic
aetiology
of
several
forms
of
adrenal
failure
that
present
in
infancy
or
childhood
.
Several
of
these
disorders
affect
adrenal
development
and
are
termed
'
adrenal
hypoplasia
'
.
These
conditions
can
be
broadly
divided
into
:
(
1
)
secondary
forms
of
adrenal
hypoplasia
due
to
panhypopituitarism
(
e
.
g
.
HESX
1
,
LHX
4
,
SOX
3
)
or
abnormalities
in
ACTH
synthesis
(
TPIT
)
or
processing
(
e
.
g
.
POMC
or
PC
1
)
;
(
2
)
adrenal
hypoplasia
as
part
of
an
ACTH
resistance
syndrome
[
MC
2
R
/
ACTH
receptor
,
MRAP
,
AAAS
(
triple
A
syndrome
)
]
,
and
(
3
)
primary
defects
in
the
development
of
the
adrenal
gland
itself
(
primary
adrenal
hypoplasia
)
.
Primary
adrenal
hypoplasia
most
commonly
occurs
in
an
X-
linked
form
due
to
mutations
in
the
nuclear
receptor
DAX
1
(
NR
0
B
1
)
but
can
occur
in
a
poorly
understood
recessive
form
or
as
part
of
the
IMAGe
(
intrauterine
growth
retardation
,
metaphyseal
dysplasia
,
adrenal
hypoplasia
,
genitourinary
anomalies
)
syndrome
.
Defining
the
molecular
basis
of
these
conditions
can
have
significant
clinical
implications
for
management
,
counselling
and
presymptomatic
diagnosis
,
as
well
as
providing
fascinating
insight
into
normal
and
abnormal
mechanisms
of
adrenal
development
in
humans
.
Diseases
Validation
Diseases presenting
"hypoplasia as part"
symptom
triple a syndrome
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