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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
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
