Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Estrogens--male hormones?
[aromatase deficiency]
The
cytochrome
P
450
aromatase
is
the
terminal
enzyme
responsible
for
the
irreversible
transformation
of
androgens
into
estrogens
;
it
is
present
in
the
endoplasmic
reticulum
membrane
of
cells
and
rather
ubiquitous
in
its
localization
.
The
aromatase
gene
is
unique
in
humans
and
its
expression
is
regulated
in
a
cell-
specific
manner
via
the
alternative
use
of
various
promoters
located
in
the
first
exon
I
of
the
CYP
19
gene
.
The
aromatase
gene
expression
and
its
translation
into
a
fully
active
protein
have
been
shown
in
most
of
the
testicular
cells
including
germ
cells
as
well
as
in
the
epithelial
cells
of
the
epididymis
in
mammals
.
Together
with
the
widespread
distribution
of
estrogen
receptors
(
ERalpha
and
ERbeta
)
in
the
genital
tract
of
the
male
,
a
physiological
role
for
estrogens
in
the
regulation
of
mammalian
reproductive
functions
including
the
regulation
of
gonadotropin
feedback
,
is
now
well
recognized
.
Moreover
,
in
men
the
aromatase
deficiency
is
associated
with
severe
bone
maturation
problems
,
alterations
of
lipid
and
sugar
metabolism
and
sterility
;
but
conversely
an
excess
of
estrogens
is
responsible
for
the
impairment
of
spermatogenesis
.
In
addition
,
estrogens
play
an
important
role
in
the
control
of
osteoporosis
and
of
atherosclerosis
,
especially
in
elderly
men
.
Consequently
,
estradiol
seems
to
be
a
critical
factor
not
only
for
normal
reproduction
(
at
least
for
maturation
and
survival
of
germ
cells
)
but
also
for
various
physiological
processes
and
thus
,
estrogens
should
be
now
considered
as
"
male
hormones
"
.
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
