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A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation.
[familial hypocalciuric hypercalcemia]
We
report
a
patient
with
familial
hypocalciuric
hypercalcemia
(
FHH
)
associated
with
primary
hyperparathyroidism
(
PHPT
)
and
incidental
papillary
thyroid
carcinoma
.
The
patient
showed
hypercalcemia
,
high
parathyroid
hormone
(
PTH
)
levels
and
low
urinary
calcium
excretion
.
A
computed
tomography
(
CT
)
scan
revealed
an
enlarged
parathyroid
gland
.
Ultrasonography
(
US
)
and
aspiration
cytology
revealed
microcarcinoma
of
the
left
lobe
of
the
thyroid
gland
.
Screening
studies
of
his
family
revealed
that
four
of
five
family
members
had
hypocalciuric
hypercalcemia
and
normal
PTH
level
.
Sequencing
analysis
of
the
calcium
sensing
receptor
gene
revealed
a
novel
heterozygous
mutation
(
3193
delA
)
in
the
patient
and
his
family
members
with
hypercalcemia
,
but
one
with
normocalcemia
.
The
patient
underwent
total
thyroidectomy
,
central
node
dissection
and
extirpation
of
the
enlarged
parathyroid
gland
.
Surgery
is
not
indicated
for
FHH
;
however
,
FHH
may
be
accompanied
with
parathyroid
adenoma
causing
PHPT
,
as
reported
here
,
for
which
surgical
treatment
is
indicated
.
