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Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency.
[aromatase deficiency]
Aromatase
deficiency
is
a
rare
autosomal
recessive
disorder
caused
by
mutations
in
the
CYP
19
A
1
gene
and
characterized
by
lack
of
conversion
of
androgens
to
estrogens
.
It
presents
with
virilization
of
pregnant
mothers
during
the
antenatal
period
,
and
virilization
of
female
fetuses
at
birth
.
Affected
subjects
of
either
gender
later
manifest
with
features
of
estrogen
deficiency
and
androgen
excess
.
We
describe
the
clinical
course
of
an
Indian
girl
with
aromatase
deficiency
from
birth
to
16
years
of
age
.
Estrogen
replacement
was
begun
at
age
13
.
5
years
.
The
child
's
growth
,
hormonal
,
radiological
,
and
metabolic
parameters
were
monitored
throughout
the
course
of
treatment
.
The
child
presented
with
obesity
,
tall
stature
,
delayed
bone
age
,
osteoporosis
,
hyperinsulinemia
with
acanthosis
nigricans
,
and
hypergonadotropic
hypogonadism
with
cystic
ovaries
.
Estrogen
replacement
resulted
in
a
plateauing
of
height
,
improvement
of
bone
maturation
,
and
pubertal
progression
with
the
disappearance
of
ovarian
cysts
.
However
,
hyperinsulinemia
and
acanthosis
nigricans
persisted
despite
estrogen
replacement
and
metformin
.
Genetic
analysis
revealed
a
homozygous
arginine
to
cysteine
substitution
at
codon
435
in
exon
10
of
CYP
19
A
1
.
T
his
is
the
first
case
of
aromatase
deficiency
reported
from
India
.
This
case
highlights
the
role
of
estrogen
in
skeletal
maturation
and
mineralization
and
the
effect
of
estrogen
deficiency
and
androgen
excess
over
glucose
metabolism
in
adolescent
females
.
Diseases
Validation
Diseases presenting
"and hypergonadotropic hypogonadism with cystic ovaries"
symptom
aromatase deficiency
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