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Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
[aromatase deficiency]
Overexpression
of
CYP
19
A
1
encoding
aromatase
results
in
a
rare
genetic
disorder
referred
to
as
aromatase
excess
syndrome
(
AEXS
)
.
Male
patients
with
AEXS
manifest
pre-
or
peri-pubertal
onset
gynecomastia
,
gonadotropin
deficiency
,
and
advanced
bone
age
,
while
female
patients
are
mostly
asymptomatic
.
To
date
,
30
male
patients
with
molecularly
confirmed
AEXS
have
been
reported
.
A
total
of
12
types
of
submicroscopic
rearrangements
,
i
.
e
.
,
two
simple
duplications
,
four
simple
deletions
,
two
simple
inversions
,
and
four
complex
rearrangements
,
have
been
implicated
in
AEXS
.
Clinical
severity
of
AEXS
primarily
depends
on
the
types
of
the
rearrangements
.
AEXS
appears
to
account
for
a
small
number
of
cases
of
pre-
or
peri-pubertal
onset
gynecomastia
,
and
should
be
suspected
particularly
when
gynecomastia
is
associated
with
an
autosomal
dominant
inheritance
pattern
,
characteristic
hormone
abnormalities
and
/
or
advanced
bone
age
.
Treatment
with
an
aromatase
inhibitor
appears
to
benefit
patients
with
AEXS
,
although
long
-term
safety
of
this
class
of
drugs
remains
unknown
.
Diseases
Validation
Diseases presenting
"simple inversions"
symptom
aromatase deficiency
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