Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Aromatase deficiency: an unusual cause for primary amenorrhea with virilization.
[aromatase deficiency]
The
most
common
cause
for
menstrual
abnormality
and
virilization
in
children
and
adolescents
would
be
congenital
adrenal
hyperplasia
.
An
elevated
17
(
OH
)
progesterone
is
invariably
seen
in
this
condition
.
Aromatase
deficiency
can
also
lead
to
a
similar
presentation
but
differs
in
several
aspects
.
The
age
of
onset
of
the
clinical
manifestations
,
the
phenotype
,
biochemical
abnormalities
and
karyotype
help
us
to
arrive
at
a
definitive
diagnosis
.
However
sometimes
the
history
is
atypical
,
biochemical
abnormalities
may
overlap
between
the
different
conditions
and
prior
treatment
may
modify
the
clinical
features
.
We
report
here
a
young
adult
with
a
late
presentation
of
aromatase
deficiency
to
highlight
the
differences
between
the
two
conditions
.
A
27
year
old
lady
presented
to
us
with
history
of
primary
amenorrhea
and
masculine
voice
.
She
lacked
feminine
secondary
sexual
characters
,
had
eunuchoid
body
habitus
and
prominent
clitoromegaly
.
Consanguinity
in
the
parents
,
a
neonatal
sibling
death
and
elevated
basal
17
(
OH
)
progesterone
in
the
patient
suggested
a
possibility
of
congenital
adrenal
hyperplasia
.
But
the
eunuchoid
body
habitus
raised
FSH
and
lack
of
response
to
dexamethasone
led
to
a
diagnosis
of
aromatase
deficiency
.
Variability
in
the
degree
of
aromatase
deficiency
is
known
such
that
maternal
virilization
may
not
occur
in
pregnancy
.
Aromatase
deficiency
should
be
suspected
when
a
patient
presents
with
primary
amenorrhea
,
absence
of
female
secondary
sexual
characters
,
virilization
and
tall
stature
with
eunuchoid
body
proportions
,
and
biochemical
features
of
ovarian
failure
.
In
our
country
one
should
be
aware
that
late
presentation
and
prior
treatment
may
modify
disease
expression
and
contribute
to
the
diagnostic
challenge
.
Diseases
Validation
Diseases presenting
"common cause"
symptom
achondroplasia
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
coats disease
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pendred syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom