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Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
[congenital adrenal hyperplasia]
Abstract
We
report
a
novel
NR
0
B
1
mutation
in
a
patient
affected
with
X-
linked
adrenal
hypoplasia
congenita
(
X-
AHC
)
.
The
proband
first
presented
with
a
generalized
convulsion
at
11
years
,
4
months
.
His
clinical
and
biochemical
presentations
were
consistent
with
adrenal
insufficiency
.
His
basal
17
-
hydroxyprogesterone
(
17
-
OHP
)
level
was
not
high
,
and
the
poor
response
in
17
-
OHP
on
ACTH
stimulation
test
excluded
congenital
adrenal
hyperplasia
.
At
14
years
of
age
,
he
did
not
show
any
signs
of
puberty
,
with
low
levels
of
LH
,
FSH
,
and
testosterone
and
unresponsiveness
to
lutenizing
hormone
releasing
hormone
stimulation
test
.
Direct
DNA
sequencing
revealed
that
the
proband
is
hemizygous
for
a
novel
NR
0
B
1
mutation
(
c
.
1177
_
1180
delGGCC
,
p
.
Gly
393
Cysfs
*
4
)
.
The
mother
is
the
conductor
of
the
mutation
,
which
is
likely
pathogenic
as
the
C-
terminus
truncated
protein
lacks
the
activation
function-
2
(
AF
2
-
TA
)
transactivation
domain
,
which
is
highly
conserved
among
members
of
the
nuclear
receptor
superfamily
.
Diseases
Validation
Diseases presenting
"terminus truncated protein"
symptom
congenital adrenal hyperplasia
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