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Reduced activity of 11β-hydroxylase accounts for elevated 17α-hydroxyprogesterone in preterms.
[congenital adrenal hyperplasia]
To
characterize
the
urinary
steroid
metabolome
of
neonates
and
infants
born
either
at
term
or
preterm
.
We
retrospectively
analyzed
urinary
steroid
hormone
metabolites
determined
by
gas
chromatography-mass
spectrometry
of
78
neonates
and
infants
born
at
term
and
83
neonates
and
infants
born
preterm
(
median
34
weeks
of
gestational
age
)
.
The
subjects
'
11
β-hydroxylase
and
21
-
hydroxylase
activities
were
assessed
on
the
basis
of
urinary
metabolite
substrate-
to
-product
ratios
.
Preterm
neonates
and
infants
had
elevated
urinary
concentrations
of
17
α-hydroxyprogesterone
(
17
OHP
)
metabolites
(
P
<
.
001
)
but
lower
urinary
concentrations
of
the
21
-
deoxycortisol
metabolite
pregnanetriolone
(
PTO
)
(
P
<
.
01
)
.
One
reason
was
lower
11
β-hydroxylase
activity
in
preterms
.
We
could
demonstrate
a
correlation
between
low
11
β-hydroxylase
activity
and
high
urinary
concentrations
of
17
OHP
metabolites
(
r
=
0
.
51
,
P
<
.
001
)
but
low
urinary
concentrations
of
the
21
-
deoxycortisol
metabolite
PTO
(
r
=
-
0
.
24
,
P
=
.
03
)
in
preterms
.
Low
11
β-hydroxylase
activity
may
explain
increased
17
OHP
but
decreased
21
-
deoxycortisol
metabolite
excretion
in
preterms
.
Our
analysis
clarifies
,
first
,
why
preterms
have
higher
17
OHP
levels
and
thus
higher
rates
of
false-
positive
screening
results
for
congenital
adrenal
hyperplasia
than
do
term
infants
,
and
,
second
,
why
21
-
deoxycortisol
or
its
urinary
metabolite
PTO
is
more
specific
than
17
OHP
for
the
diagnosis
of
21
-
hydroxylase
deficiency
.
Diseases
Validation
Diseases presenting
"retrospectively analyzed urinary steroid hormone metabolites"
symptom
congenital adrenal hyperplasia
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