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Aromatase deficiency, a rare syndrome: case report.
[aromatase deficiency]
Aromatase
deficiency
(
AD
)
is
a
rare
autosomal
recessive
inheritance
syndrome
.
Its
worldwide
incidence
is
unknown
,
and
there
are
few
case
reports
in
the
literature
.
Aromatase
dysfunction
develops
due
to
CYP
19
A
1
gene
mutation
and
a
decrease
in
estrogen
synthesis
.
Estrogen
deficiency
can
induce
delayed
epiphyseal
closure
,
eunuchoid
body
habitus
,
osteopenia
,
and
osteoporosis
in
both
genders
.
Our
patient
was
a
27
-
year
-old
male
who
presented
with
bone
pain
,
recurrent
bone
fractures
associated
with
minimal
trauma
starting
in
puberty
,
and
a
progressive
increase
in
height
.
Laboratory
tests
revealed
that
the
blood
levels
of
follicle-stimulating
hormone
and
luteinizing
hormone
were
above
normal
,
testosterone
level
was
normal
,
and
estrogen
was
undetectable
.
Plain
bone
radiography
of
the
left
wrist
and
hand
demonstrated
that
the
epiphyses
were
still
unfused
.
Lumbar
osteoporosis
was
detected
in
bone
densitometry
.
In
the
genetic
analysis
,
homozygous
R
375
H
guanine-adenine
(
G-A
)
mutation
was
detected
in
the
CYP
19
A
1
gene
,
and
a
diagnosis
of
AD
was
reached
.
Treatment
with
25
μg
transdermal
estradiol
was
started
.
All
family
members
were
examined
.
Homozygous
R
375
H
G-A
mutation
was
detected
in
the
patient
's
younger
brother
.
Heterozygous
R
375
H
G-A
mutation
was
found
in
his
mother
,
father
,
and
older
brother
.
In
conclusion
,
this
AD
patient
requires
lifetime
estrogen
replacement
in
order
to
provide
sufficient
bone
mineralization
,
to
reduce
the
risk
of
bone
fractures
,
and
to
lead
a
healthy
life
.
The
best
method
to
prevent
the
possible
complications
is
to
diagnose
the
AD
syndrome
at
early
ages
and
to
provide
adequate
estrogen
replacement
starting
at
puberty
.
Diseases
Validation
Diseases presenting
"bone pain"
symptom
aromatase deficiency
cutaneous mastocytosis
erdheim-chester disease
primary hyperoxaluria type 1
This symptom has already been validated