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Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
[congenital adrenal hyperplasia]
Context
:
Reports
on
mortality
in
patients
with
congenital
adrenal
hyperplasia
(
CAH
)
are
lacking
.
Objective
:
To
study
mortality
and
causes
of
death
in
CAH
.
Design
,
Setting
and
Participants
:
We
studied
patients
with
CAH
(
21
-
hydroxylase
deficiency
,
n
=
588
;
CYP
21
A
2
mutations
known
,
>
80
%
)
,
and
compared
them
with
controls
(
n
=
58800
)
.
Data
were
derived
through
linkage
of
national
population-based
registers
.
Main
Outcome
Measures
:
Mortality
and
causes
of
death
.
Results
:
The
mean
age
of
death
was
41
.
2
±
26
.
9
years
in
CAH
patients
and
47
.
7
±
27
.
7
years
in
controls
(
P
<
0
.
001
)
.
Among
CAH
patients
23
(
3
.
9
%
)
had
deceased
compared
to
942
(
1
.
6
%
)
of
controls
.
The
hazard
ratio
(
and
95
%
confidence
interval
)
of
death
was
2
.
3
(
1
.
2
-
4
.
3
)
in
CAH
males
and
3
.
5
(
2
.
0
-
6
.
0
)
in
CAH
females
.
Including
only
patients
born
1952
-
2009
,
gave
similar
total
results
but
only
patients
with
salt-wasting
or
with
unclear
phenotype
had
an
increased
mortality
.
The
causes
of
death
in
CAH
patients
were
adrenal
crisis
(
42
%
)
,
cardiovascular
(
32
%
)
,
cancer
(
16
%
)
,
and
suicide
(
10
%
)
.
There
were
seven
additional
deaths
in
CAH
individuals
with
incomplete
or
reused
personal
identification
number
that
could
not
be
analyzed
using
linkage
of
registers
.
Of
the
latter
all
except
one
were
deceased
before
the
introduction
of
neonatal
screening
in
1986
and
most
of
them
in
the
first
weeks
of
life
,
probably
in
an
adrenal
crisis
.
Conclusions
:
CAH
is
a
potentially
lethal
condition
and
was
associated
with
excess
mortality
due
to
adrenal
crisis
.
The
salt-wasting
phenotype
seemed
to
have
worse
outcome
also
in
children
and
adults
due
to
adrenal
crisis
and
not
only
before
the
introduction
of
neonatal
screening
.