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Disorders of adrenal development.
[neonatal adrenoleukodystrophy]
Human
adrenal
development
is
a
complex
and
relatively
poorly
understood
process
.
However
,
significant
insight
into
some
of
the
mechanisms
regulating
adrenal
development
and
function
is
being
obtained
through
the
analysis
of
individuals
and
families
with
adrenal
hypoplasia
.
Adrenal
hypoplasia
can
occur
:
(
1
)
secondary
to
defects
in
pituitary
adrenocorticotropin
(
ACTH
)
synthesis
,
processing
and
release
(
secondary
adrenal
hypoplasia
;
e
.
g
.
HESX
1
,
LHX
4
,
SOX
3
,
TPIT
,
pituitary
POMC
,
PC
1
)
;
(
2
)
as
part
of
several
ACTH
resistance
syndromes
(
e
.
g
.
MC
2
R
/
ACTHR
,
MRAP
,
Alacrima
,
Achalasia
,
Addison
disease
)
,
or
as
(
3
)
a
primary
defect
in
the
development
of
the
adrenal
gland
itself
(
primary
adrenal
hypoplasia
;
e
.
g
.
DAX
1
/
NR
0
B
1
-
dosage-sensitive
sex
reversal
,
adrenal
hypoplasia
congenita
critical
region
on
the
X
chromosome
1
)
.
Indeed
,
the
X-
linked
form
of
primary
adrenal
hypoplasia
due
to
deletions
or
mutations
in
the
orphan
nuclear
receptor
DAX
1
occurs
in
around
half
of
male
infants
presenting
with
a
salt
-losing
adrenal
crisis
,
where
no
obvious
steroidogenic
defect
(
e
.
g
.
21
-
hydroxylase
deficiency
)
,
metabolic
abnormality
(
e
.
g
.
neonatal
adrenoleukodystrophy
)
or
physical
cause
(
e
.
g
.
adrenal
haemorrhage
)
is
found
.
Establishing
the
underlying
basis
of
adrenal
failure
can
have
important
implications
for
investigating
associated
features
,
the
likely
long
-term
approach
to
treatment
,
and
for
counselling
families
about
the
risk
of
other
children
being
affected
.
Diseases
Validation
Diseases presenting
"primary adrenal hypoplasia"
symptom
neonatal adrenoleukodystrophy
triple a syndrome
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