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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
"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
