Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.
[aromatase deficiency]
The
adequate
replacement
dose
of
estrogens
during
infancy
and
childhood
is
still
not
known
in
girls
.
Aromatase
deficiency
offers
an
excellent
model
to
study
how
much
estrogens
are
needed
during
infancy
,
childhood
and
adulthood
.
We
studied
the
impact
of
oral
17
β-estradiol
treatment
,
on
longitudinal
growth
,
bone
age
maturation
,
pituitary
gonadotropin
feedback
,
multicystic
ovaries
and
bone
mass
in
the
long
-term
follow-up
of
a
girl
compound
heterozygote
for
two
point
mutations
of
the
CYP
19
A
1
gene
.
L
ow
doses
of
17
β-estradiol
were
needed
to
achieve
normal
height
velocity
and
adequate
bone
age
maturation
from
early
childhood
on
.
Serum
estradiol
levels
needed
for
breast
development
and
for
the
appearance
of
an
endometrial
reflex
were
not
sufficient
to
achieve
physiological
gonadotropin
levels
.
Without
17
β-estradiol
treatment
the
ovaries
of
the
patient
showed
a
multicystic
appearance
,
which
reversed
on
17
β-estradiol
replacement
.
Bone
mass
was
within
normal
ranges
during
the
whole
follow-up
period
.
In
summary
,
we
have
shown
that
estradiol
is
needed
not
only
in
puberty
but
also
in
childhood
for
normal
growth
,
bone
maturation
and
achievement
of
normal
bone
mass
.
Particularly
,
this
observation
underscores
the
importance
of
early
low
-dose
estrogen
replacement
also
in
other
estrogen-
deficient
conditions
as
for
instance
in
Turner
's
syndrome
.
Diseases
Validation
Diseases presenting
"pituitary gonadotropin feedback"
symptom
aromatase deficiency
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
