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Uncoupling of secretion from growth in some hormone secretory tissues.
[familial hypocalciuric hypercalcemia]
Most
syndromes
with
benign
primary
excess
of
a
hormone
show
positive
coupling
of
hormone
secretion
to
size
or
proliferation
in
the
affected
hormone
secretory
tissue
.
Syndromes
that
lack
this
coupling
seem
rare
and
have
not
been
examined
for
unifying
features
among
each
other
.
Selected
clinical
and
basic
features
were
analyzed
from
original
reports
and
reviews
.
We
examined
indices
of
excess
secretion
of
a
hormone
and
indices
of
size
of
secretory
tissue
within
the
following
three
syndromes
,
each
suggestive
of
uncoupling
between
these
two
indices
:
familial
hypocalciuric
hypercalcemia
,
congenital
diazoxide-resistant
hyperinsulinism
,
and
congenital
primary
hyperaldosteronism
type
III
(
with
G
151
E
mutation
of
the
KCNJ
5
gene
)
.
Some
unifying
features
among
the
three
syndromes
were
different
from
features
present
among
common
tumors
secreting
the
same
hormone
.
The
unifying
and
distinguishing
features
included
:
1
)
expression
of
hormone
excess
as
early
as
the
first
days
of
life
;
2
)
normal
size
of
tissue
that
oversecretes
a
hormone
;
3
)
diffuse
histologic
expression
in
the
hormonal
tissue
;
4
)
resistance
to
treatment
by
subtotal
ablation
of
the
hormone-secreting
tissue
;
5
)
causation
by
a
germline
mutation
;
6
)
low
potential
of
the
same
mutation
to
cause
a
tumor
by
somatic
mutation
;
and
7
)
expression
of
the
mutated
molecule
in
a
pathway
between
sensing
of
a
serum
metabolite
and
secretion
of
hormone
regulating
that
metabolite
.
Some
shared
clinical
and
basic
features
of
uncoupling
of
secretion
from
size
in
a
hormonal
tissue
characterize
three
uncommon
states
of
hormone
excess
.
These
features
differ
importantly
from
features
of
common
hormonal
neoplasm
of
that
tissue
.
Diseases
Validation
Diseases presenting
"tumor by somatic mutation"
symptom
familial hypocalciuric hypercalcemia
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