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Advances in the understanding of the genetic basis of adrenal insufficiency.
[triple a syndrome]
Primary
adrenal
failure
in
a
pediatric
population
most
frequently
results
from
autoimmune
destruction
of
the
gland
.
Recent
discoveries
regarding
the
genetic
factors
underlying
this
and
other
inherited
causes
of
adrenocortical
failure
provide
valuable
insights
into
the
molecular
basis
of
adrenal
development
and
function
.
Among
these
are
the
clinical
syndromes
resulting
from
defects
in
DAX-
1
and
SF-
1
and
the
functional
defects
caused
by
mutations
in
the
ACTH
receptor
and
the
StAR
protein
.
Adrenoleukodystrophy
and
the
triple
A
syndrome
result
from
the
degenerative
effects
induced
by
failure
of
very
long
chain
fatty
acid
metabolism
in
the
former
case
and
the
unknown
effects
of
a
novel
protein
that
is
mutated
in
the
latter
case
.
This
review
summarizes
these
recent
findings
and
briefly
describes
the
possible
pathogenetic
mechanisms
that
they
reveal
.
