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Surgical management of nonmultiple endocrine neoplasia endocrinopathies: state-of-the-art review.
[pendred syndrome]
The
development
of
genetic
testing
has
given
patients
with
familial
endocrine
diseases
the
opportunity
to
be
identified
earlier
in
life
.
The
importance
of
this
technological
advancement
can
not
be
underestimated
,
as
some
of
these
heritable
diseases
have
significant
potential
for
malignancy
.
This
article
focuses
on
the
identification
and
surgical
management
of
familial
endocrinopathies
of
the
thyroid
,
parathyroid
,
adrenal
glands
,
and
pancreas
.
Familial
endocrinopathies
discussed
include
hereditary
nonmedullary
carcinoma
of
the
thyroid
,
Cowden
disease
,
familial
adenomatous
polyposis
,
Carney
complex
,
Werner
syndrome
,
familial
medullary
thyroid
carcinoma
,
Pendred
syndrome
,
hereditary
hyperparathyroidism
jaw-
tumor
syndrome
,
familial
isolated
hyperparathyroidism
,
Beckwith-
Wiedemann
syndrome
,
Li-
Fraumeni
syndrome
,
neurofibromatosis
I
,
von
Hippel-
Lindau
disease
,
and
tuberous
sclerosis
.
Diseases
Validation
Diseases presenting
"hyperparathyroidism"
symptom
cushing syndrome
cystinuria
familial hypocalciuric hypercalcemia
lamellar ichthyosis
pendred syndrome
This symptom has already been validated