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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
"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