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Aromatase and estrogen receptor α deficiency.
[aromatase deficiency]
Studies
on
the
phenotypes
of
women
and
men
with
mutations
disrupting
estrogen
biosynthesis
and
action
have
significantly
advanced
our
knowledge
of
the
physiologic
roles
of
estrogen
in
humans
.
Aromatase
deficiency
results
from
autosomal
recessive
inheritance
of
mutations
in
the
CYP
19
A
1
gene
.
It
gives
rise
to
ambiguous
genitalia
in
46
,
XX
fetuses
.
At
puberty
,
affected
girls
have
hypergonadotropic
hypogonadism
,
do
not
develop
secondary
sexual
characteristics
,
and
exhibit
progressive
virilization
.
The
affected
46
,
XY
men
have
normal
male
sexual
differentiation
and
pubertal
maturation
.
These
men
,
however
,
are
extremely
tall
and
have
eunucoid
proportions
with
continued
linear
growth
into
adulthood
,
severely
delayed
epiphyseal
closure
,
and
osteoporosis
due
to
estrogen
deficiency
.
Although
estrogen
has
been
shown
to
be
essential
for
normal
sperm
production
and
function
in
mice
,
its
role
in
fertility
is
not
clear
in
men
.
Thus
far
,
one
man
and
an
unrelated
woman
with
estrogen
resistance
due
to
mutations
in
the
estrogen
receptor
α
(
ESR
1
)
gene
have
been
described
.
Their
clinical
presentations
are
similar
to
that
of
aromatase-
deficient
men
and
women
.
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