Journal of Endocrinological Investigation,
Год журнала:
2025,
Номер
unknown
Опубликована: Фев. 1, 2025
Abstract
Background
Somatic
alterations
are
commonly
observed
in
adrenocortical
adenomas
including
cortisol-producing
(CPA)
[overt
Cushing
syndrome
(CS)
or
mild
autonomous
cortisol
secretion
(MACS)],
aldosterone-producing
(APA),
and
non-functioning
(NFAT)
tumors.
We
tested
whether
somatic
variants
could
be
detected
circulating
cell-free
DNA
(ccfDNA)
from
patients
with
potentially
contribute
to
management
strategies.
Materials
methods
investigated
44
(17
CPA-MACS,
9
CPA-CS,
12
APA,
6
NFAT).
23
healthy
subjects
(HS)
served
as
controls.
ccfDNA
was
extracted
blood
samples
quantified
fluorimeter.
Tumor
(T-DNA)
isolated
paraffin
embedded
tissue
17/44
cases.
Matched
ccfDNA/T-DNA
were
sequenced
using
a
customized
panel
32
genes.
Leucocyte
used
filter
out
germline
variants.
Results
Patients
had
higher
total
concentrations
than
HS
[median
0.12
(IQR
0.05–0.19)
vs.
0.05
(0.00-0.08)
ng/µl,
P
<
0.001],
CPA-CS
showing
the
highest
levels
[0.18
(0.05–0.47)
ng/µl].
Within
T-DNA,
identified
53%
of
adenomas:
PRKACA
2/7
CTNNB1
3/5
CPA-MACS
1/7
KCNJ5
2/5
APA
CACNA1D
1/5
APA.
mutations
not
any
samples.
Conclusions
Total
CPA-CS.
Despite
presence
half
tumor
samples,
we
did
detect
at
level.
Therefore,
this
approach
appears
ineffective
for
pre-operative
detection
genetic
alterations.
European Journal of Endocrinology,
Год журнала:
2023,
Номер
189(1), С. G1 - G42
Опубликована: Июнь 15, 2023
Adrenal
incidentalomas
are
adrenal
masses
detected
on
imaging
performed
for
reasons
other
than
suspected
disease.
In
most
cases,
nonfunctioning
adrenocortical
adenomas
but
may
also
require
therapeutic
intervention
including
that
carcinoma,
pheochromocytoma,
hormone-producing
adenoma,
or
metastases.
Here,
we
provide
a
revision
of
the
first
international,
interdisciplinary
guidelines
incidentalomas.
We
followed
Grading
Recommendations
Assessment,
Development
and
Evaluation
system
updated
systematic
reviews
4
predefined
clinical
questions
crucial
management
incidentalomas:
(1)
How
to
assess
risk
malignancy?;
(2)
define
manage
mild
autonomous
cortisol
secretion?;
(3)
Who
should
have
surgical
treatment
how
it
be
performed?;
(4)
What
follow-up
is
indicated
if
incidentaloma
not
surgically
removed?
Selected
Recommendations:
Each
mass
requires
dedicated
imaging.
Recent
advances
now
allow
discrimination
between
categories:
Homogeneous
lesions
with
Hounsfield
unit
(HU)
≤
10
unenhanced
CT
benign
do
any
additional
independent
size.
All
patients
discussed
in
multidisciplinary
expert
meeting,
only
>4
cm
inhomogeneous
HU
>20
sufficiently
high
malignancy
surgery
will
usual
choice.
Every
patient
needs
thorough
endocrine
work-up
exclude
hormone
excess
measurement
plasma
urinary
metanephrines
1-mg
overnight
dexamethasone
suppression
test
(applying
cutoff
value
serum
≤50
nmol/L
[≤1.8
µg/dL]).
studies
provided
evidence
without
signs
overt
Cushing's
syndrome
levels
post
>50
(>1.8
µg/dL)
harbor
increased
morbidity
mortality.
For
this
condition,
propose
term
"mild
secretion"
(MACS).
MACS
screened
potential
cortisol-related
comorbidities
potentially
attributably
(eg,
hypertension
type
2
diabetes
mellitus),
ensure
these
appropriately
treated.
who
relevant
considered
an
individualized
approach.
(5)
The
appropriateness
guided
by
likelihood
malignancy,
presence
degree
excess,
age,
general
health,
preference.
guidance
which
approach
radiological
findings
suspicious
malignancy.
(6)
Surgery
usually
asymptomatic,
unilateral
obvious
features
studies.
Furthermore,
offer
recommendations
nonoperated
patients,
bilateral
incidentalomas,
extra-adrenal
masses,
young
elderly
Finally,
suggest
important
research
future.
Annals of Internal Medicine,
Год журнала:
2022,
Номер
175(10), С. 1383 - 1391
Опубликована: Сен. 12, 2022
With
the
widespread
use
of
advanced
imaging
technology,
adrenal
tumors
are
increasingly
being
identified.To
investigate
prevalence
and
characteristics
in
an
unselected
screening
population
China.Cross-sectional
study.
(ClinicalTrials.gov:
NCT04682938).A
health
examination
center
China.Adults
having
annual
checkup
were
invited
to
be
screened
for
by
computed
tomography.The
participants
with
had
further
evaluation
malignancy
risk
function.A
total
25
356
screened,
351
whom
found
have
tumors,
a
1.4%.
The
increased
age,
from
0.2%
aged
18
years
3.2%
those
older
than
65
years.
Among
337
diagnosed
adrenocortical
adenoma,
14
another
benign
nodule,
none
malignant
mass.
In
212
adenoma
who
completed
endocrine
testing,
69.3%
nonfunctioning
18.9%
cortisol
autonomy,
11.8%
primary
aldosteronism,
pheochromocytoma.
Proportions
adenomas
similarly
high
various
age
groups
(72.2%,
67.8%,
72.2%
<46,
46
65,
≥66
years,
respectively).Only
testing.The
general
adult
is
1.4%,
most
these
regardless
patient
age.
Cortisol
aldosterone
secretion
main
causes
functional
adenomas.National
Key
Research
Development
Program
China
National
Natural
Science
Foundation
China.
European Journal of Endocrinology,
Год журнала:
2023,
Номер
189(4), С. S88 - S101
Опубликована: Окт. 1, 2023
Abstract
Objective
To
assess
(1)
comorbidities
associated
with
and
(2)
treatment
strategies
for
patients
adrenal
incidentalomas
mild
autonomous
cortisol
secretion
(MACS;
>
1.8
µg/dL
(>50
nmol/L)
level
cut-off
following
the
1
mg
dexamethasone
suppression
test).
Design
Systematic
review
meta-analysis.
Methods
Seven
databases
were
searched
up
to
July
14,
2022.
Eligible
studies
(randomized)
trials,
cohort
studies,
cross-sectional
assessing
potentially
attributable
excess
or
mortality
in
incidentaloma
without
MACS
effects
of
conservative
surgical
management
MACS.
Random-effects
meta-analysis
was
performed
estimate
pooled
proportions
(with
95%
CIs).
Results
In
30
16
(n
=
17
156
total),
had
a
higher
prevalence
diabetes
(relative
risk
[RR]
1.44
[1.23-1.69]),
hypertension
(RR
1.24
[1.16-1.32]),
dyslipidemia
1.23
[1.13-1.34]).
All-cause
(adjusted
confounders)
MACS,
assessed
4
5921),
increased
(hazard
ratio
[HR]
1.54
[1.27-1.81]).
Nine
observational
856)
2
randomized
trials
107)
suggest
an
improvement
glucometabolic
control
7.99
[2.95-21.90]),
8.75
[3.99-19.18]),
3.24
[1.19-8.82])
adrenalectomy.
Conclusions
The
present
systematic
highlight
relevance
since
both
cardiometabolic
morbidities
appeared
have
compared
non-functioning
incidentalomas.
However,
due
heterogeneous
definitions,
various
outcomes,
selective
reporting,
missing
data,
reported
estimates
need
be
interpreted
caution.
small
number
prevents
any
strong
conclusion
on
causality
between
these
comorbidities.
European Journal of Endocrinology,
Год журнала:
2023,
Номер
188(4), С. 343 - 352
Опубликована: Март 23, 2023
Abstract
Objective
Mild
autonomous
cortisol
secretion
(MACS)
has
been
associated
with
a
higher
prevalence
of
osteoporosis,
although
most
data
rely
on
single-center
studies
limited
sample
size.
We
aimed
to
assess
the
fragility
fractures
and
contributing
factors
in
large
cohort
patients
adrenal
incidentalomas.
Design
Methods
Medical
records
1023
incidentalomas
from
1990
2019
were
reviewed,
735
selected.
Clinically
obtained
electronic
radiological
images
closest
first
endocrine
evaluation,
such
as
lateral
views
spine
X-rays
or
CT
thoraco-abdominal
scans,
reviewed
screen
for
asymptomatic
morphometric
vertebral
fractures.
Clinical
fractures,
hormonal,
dual-energy
x-ray
absorptiometry
(DXA)
indices
also
recorded.
Results
Four
hundred
seventy-four
had
nonfunctioning
(NF)
incidentalomas,
238
MACS
23
Cushing's
syndrome
(AC).
Prevalence
was
different
(P
=
.018)
between
groups,
respectively,
24.1%
(NF),
34.0%
(MACS),
30.4%
(AC),
significant
difference
NF
.012).
When
analyzed
separately
by
sex
menopausal
status,
this
remained
postmenopausal
women
.011),
fracture
22.2%
34.6%
(MACS).
Fracture
similar
males.
Women
aged
≥65
years
reported
48.8%
compared
29.5%
<
.01).
In
women,
age
(odds
ratio
[OR]
1.1,
P
.001),
smoking
(OR
1.8,
.048),
1
mg-dexamethasone
suppression
test
(DST)
3.1,
.029),
while
men,
only
Conclusions
A
considerable
burden
shown
MACS,
clinical
implications
evaluation
management
bone
metabolism.
Discover Sustainability,
Год журнала:
2024,
Номер
5(1)
Опубликована: Май 30, 2024
Abstract
Ensuring
good
health
and
well-being
is
one
of
the
crucial
Sustainable
Development
Goals
(SDGs)
that
aims
to
promote
healthy
lives
for
people
all
ages.
This
involves
providing
affordable
environmentally
friendly
medical
services
public
fairly
equitably.
Good
goals
include
achieving
fair
outcomes
strong
healthcare
systems.
It
also
highlights
importance
integrating
sustainable
considerations
into
policy
frameworks
developing
countries,
which
are
established
address
social
factors
influence
health.
Regarding
reform,
Information
Communication
Technologies
(ICTs)
play
a
pivotal
role
as
key
enablers
improve
patient
access,
treatment
quality,
system
efficiency.
shift
in
focus
significance
fostering
digital
accessibility,
sustainability,
inventiveness,
cybersecurity,
leadership.
Nevertheless,
incorporating
progressively
advancing
ICT
technology
systems,
sometimes
called
transformation,
not
simple.
However,
some
challenges
arise
integration,
application
design,
security
measures.
While
numerous
studies
have
been
suggested
tackle
technologies
these
had
limited
scope
considered
several
factors.
Therefore,
there
pressing
need
an
extensive
research
study
focusing
on
integration
technologies,
design
challenges,
privacy
areas,
potential
positive
negative
effects.
this
paper
contributes
literature
covering
important
SDG,
“Good
well-being,”
its
along
with
summarising
our
findings
detailed
taxonomical
way.
First,
we
analyze
all-encompassing
taxonomy
prior
well-being,
emphasizing
healthcare,
specifically
applications
associated
Electronic
Health
(E-Health),
future
avenues
exploration.
Then,
explore
transformation
significant
components,
highlight
E-Health’s
benefits,
categorize
challenges.
Next,
determine
Blockchain
Technology
today’s
leading
E-Health.
We
discuss
characteristics,
describe
possible
types
Blockchain-based
E-Health
use
cases.
Furthermore,
compare
impacts
identify
open
issues
directions,
strengthening
researchers
solutions.
The Journal of Clinical Endocrinology & Metabolism,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 4, 2025
Abstract
Context
Primary
bilateral
macronodular
adrenal
hyperplasia
(PBMAH),
the
most
common
cause
of
Cushing
syndrome
due
to
nodules,
is
a
heterogeneous
disease
at
clinical,
hormonal,
and
morphological
levels.
ARMC5-inactivating
pathogenic
variants
are
causative
PBMAH,
rare
PDE11A
have
been
associated
with
PBMAH.
Objective
The
aim
this
study,
on
large
cohort
individuals
PBMAH
from
Europe
America,
was
study
ARMC5
genotype
determine
genotype/phenotype
correlation
investigate
hypothesis
that
could
be
modifying
gene
phenotype.
Methods
Leukocyte
DNA
354
index
cases
sequenced
for
genes
by
next-generation
sequencing.
Phenotypic
characteristics
334
these
patients
were
analyzed
correlations.
Results
Seven
out
16
considered
damaging
according
in
silico
predictions:
6
missense
(p.Tyr727Cys,
p.Met623Arg,
p.Tyr658Cys,
p.Ag867Trp,
p.Asn298Ser,
p.Glu840Lys)
1
stop-gain
variant
(p.Arg307Ter).
In
cohort,
11.4%
had
one
19.2%
ARMC5-pathogenic
variants.
There
no
statistically
significant
difference
distribution
PDE11A-damaging
status
(P
=
.83;
OR
0.79;
95%
CI,
0.26-2.03)
nor
0.81;
0.27-2.04).
Patients
lower
urinary
free
cortisol
(0.7
vs
1.25
upper
limit
normal;
P
.0002),
midnight
plasma
(157.81
222.19
nmol/L,
.016),
number
nodules
(3.46
4.74;
.048)
compared
wild-type
patients.
more
severe
phenotype
frequent
comorbidities
often
treated
adrenalectomy
(60%).
Conclusion
appears
modulator
phenotype,
being
an
attenuated
form.
This
may
contribute
heterogeneity
affect
patient
management.
Journal of Endocrinological Investigation,
Год журнала:
2023,
Номер
47(1), С. 101 - 113
Опубликована: Июнь 14, 2023
Abstract
Context
Cushing
syndrome
(CS)
is
associated
with
different
hematological
abnormalities.
Nevertheless,
conflicting
data
about
erythropoiesis
in
CS
have
been
reported.
Furthermore,
it
unclear
whether
sex
and
subtype-specific
alterations
red
blood
cells
(RBC)
parameters
are
present.
Objective
To
investigate
changes
RBC
patients
at
initial
diagnosis
after
remission.
Design
Retrospective,
monocentric
study
including
210
(women,
n
=
162)
matched
1:1
for
age
to
pituitary
microadenomas
or
adrenal
incidentalomas
(both
hormonally
inactive).
were
evaluated
Results
Women
had
higher
hematocrit
(median
42.2
vs
39.7%),
hemoglobin
(14.1
13.4
g/dl)
mean
corpuscular
volume
(MCV)
(91.2
87.9
fl)
compared
the
controls
(all
p
<
0.0001).
disease
(CD)
showed
hematocrit,
levels
than
those
ectopic
(ECS)
0.005).
Men
lower
(42.9
44.7%),
count
(4.8
5.1n*10
6
/µl)
(14.2
15.4
g/dl),
but
MCV
(90.8
87.5
0.05).
In
men
CS,
no
differences
identified.
Three
months
remission
decreased
both
sexes.
Conclusion
characterized
by
sexual
parameters.
Compared
controls,
women
hematocrit/hemoglobin
levels,
whereas
hematocrit/hemoglobin,
which
further
directly
Therefore,
anemia
should
be
considered
as
complication
of
men.
women,
may
help
differentiate
CD
from
ECS.