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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
"low levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
adrenomyeloneuropathy
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
congenital adrenal hyperplasia
congenital diaphragmatic hernia
esophageal carcinoma
hodgkin lymphoma, classical
liposarcoma
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
primary effusion lymphoma
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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