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Of mice and men: the evolving phenotype of aromatase deficiency.
[aromatase deficiency]
We
are
rapidly
becoming
aware
of
the
importance
of
estrogen
in
maintaining
virtually
all
facets
of
male
health
.
In
order
for
estrogens
to
be
synthesized
endogenously
,
the
enzyme
responsible
for
their
synthesis
from
androgens
,
aromatase
,
must
be
functional
.
The
seven
known
men
in
whom
aromatase
is
nonfunctional
all
have
a
mutation
in
either
exon
V
or
IX
of
the
CYP
19
gene
,
which
encodes
aromatase
.
Collectively
,
these
men
are
reported
to
have
undetectable
estrogen
;
normal
to
high
levels
of
testosterone
and
gonadotropins
;
tall
stature
with
delayed
skeletal
maturation
and
epiphyseal
closure
;
osteoporosis
;
impaired
lipid
and
insulin
metabolism
;
and
impaired
reproductive
function
.
The
aromatase
knockout
mouse
presents
with
a
phenotype
that
is
similar
in
many
aspects
and
provides
a
valuable
tool
with
which
to
examine
and
manipulate
the
actions
of
estrogen
.
By
studying
the
naturally
occurring
aromatase-
deficient
humans
,
together
with
studies
of
the
aromatase-knockout
mouse
,
we
are
expanding
our
understanding
of
the
essential
role
of
estrogen
in
male
physiology
.
Diseases
Validation
Diseases presenting
"osteoporosis"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
cutaneous mastocytosis
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
inclusion body myositis
kallmann syndrome
oligodontia
pyomyositis
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated