Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Human models of aromatase deficiency.
[aromatase deficiency]
Estrogens
exert
a
wide
range
of
biological
effects
in
both
sexes
also
on
non-reproductive
systems
and
organs
.
Human
congenital
estrogen
deficiency
,
due
to
an
inactivating
mutation
of
the
aromatase
gene
,
leads
to
the
lack
of
the
estrogen
synthesis
,
with
gonadotropins
and
circulating
testosterone
ranging
from
normal
to
elevated
.
The
aromatese-
deficient
females
show
hyperandrogenism
and
virilization
at
birth
with
ambiguous
genitalia
.
During
childhood
there
are
a
dysfunction
in
the
LHRH-LH
/
FSH
axis
and
a
progressive
delay
in
bone
age
.
At
puberty
they
show
primary
amenorrhea
,
no
breast
development
,
worsening
of
the
virilization
and
the
absence
of
growth
spurt
.
The
clinical
phenotype
in
the
male
affected
subjects
comprises
tall
stature
,
persistent
linear
growth
and
delayed
bone
age
,
osteopenia
/
osteoporosis
,
eunuchoid
body
proportion
,
different
degrees
of
glucose-
insulin
and
of
fertility
impairment
.
These
phenotypes
suggest
the
physiological
role
of
estrogens
on
the
skeleton
,
on
pituitary
function
,
on
the
reproductive
system
,
on
glucose
metabolism
,
being
the
precise
mechanism
on
each
of
these
functions
not
yet
known
in
detail
.
The
estradiol
replacement
treatment
leads
to
a
complete
epiphyseal
closure
and
to
the
skeletal
maturation
.
Moreover
,
the
increasing
knowledge
on
the
role
of
estrogen
in
several
metabolic
pathways
could
be
important
for
a
better
management
of
several
metabolic
diseases
.
Diseases
Validation
Diseases presenting
"tall stature"
symptom
achondroplasia
aromatase deficiency
cohen syndrome
This symptom has already been validated
