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Prevalence of hypocalcaemia and its associated features in 22q11ยท2 deletion syndrome.
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
is
a
relatively
common
yet
under-recognized
genetic
syndrome
that
may
present
with
endocrine
features
.
We
aimed
to
address
the
factors
that
contribute
to
the
high
prevalence
of
hypocalcaemia
.
We
investigated
hypocalcaemia
in
a
well-characterized
sample
of
138
adults
with
22
q
11
.
2
DS
(
65
m
,
73
F
;
mean
age
34
.
2
,
SD
11
.
8
,
years
)
using
laboratory
studies
and
lifelong
medical
records
.
Logistic
regression
modelling
was
used
to
identify
features
associated
with
lifetime
prevalence
of
hypocalcaemia
.
Of
the
total
sample
,
111
(
80
.
4
%
)
had
a
lifetime
history
of
hypocalcaemia
.
Eleven
(
84
.
6
%
)
of
13
subjects
with
neonatal
hypocalcaemia
had
documented
recurrence
of
hypocalcaemia
.
Lifetime
history
of
hypocalcaemia
was
associated
with
lifetime
prevalence
of
hypoparathyroidism
(
P
<
0
.
0001
)
and
hypothyroidism
(
P
=
0
.
04
)
,
as
statistically
independent
factors
.
Hypomagnesaemia
was
associated
with
concurrent
hypocalcaemic
measurements
,
especially
in
the
presence
of
concurrent
hypoparathyroidism
(
P
=
0
.
02
)
.
The
results
suggest
that
,
in
addition
to
the
major
effect
of
hypoparathyroidism
,
hypothyroidism
may
play
a
role
in
hypocalcaemia
in
22
q
11
.
2
DS
and
that
there
is
a
high
recurrence
rate
of
neonatal
hypocalcaemia
.
Hypomagnesaemia
may
contribute
to
hypocalcaemia
by
further
suppressing
parathyroid
hormone
(
PTH
)
.
Although
further
studies
are
needed
,
the
findings
support
regular
lifelong
follow-up
of
calcium
,
magnesium
,
PTH
and
TSH
levels
in
patients
with
22
q
11
.
2
DS
.
At
any
age
,
hypocalcaemia
with
hypoparathyroidism
and
/
or
hypothyroidism
may
suggest
a
diagnosis
of
22
q
11
.
2
DS
.
Diseases
Validation
Diseases presenting
"high recurrence rate"
symptom
22q11.2 deletion syndrome
cholangiocarcinoma
dedifferentiated liposarcoma
junctional epidermolysis bullosa
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