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A novel mutation in the human aromatase gene: insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment.
[aromatase deficiency]
Here
we
report
on
a
new
case
of
human
aromatase
deficiency
in
a
man
of
26
years
of
age
and
present
the
results
of
five
year
follow-up
during
trandermal
estradiol
(
tE
2
)
substitution
,
focusing
on
bone
growth
and
mineralization
.
The
lack
of
patient
's
compliance
to
tE
2
treatment
,
resulting
in
low
but
detectable
serum
estradiol
levels
,
provides
helpful
information
about
the
physiological
estradiol
needed
in
serum
to
guarantee
a
complete
bone
maturation
and
mineralization
.
Clinical
case
report
study
.
Genetic
,
biochemical
and
hormonal
evaluations
and
the
study
of
bone
health
were
performed
before
and
during
estrogen
treatment
.
Eunuchoid
body
proportions
,
unfused
epiphyses
,
tall
stature
,
osteopenia
,
increase
fasting
insulin
,
mild
astenozoospermia
and
a
history
of
right
cryptorchidism
were
present
.
Baseline
serum
FSH
was
slightly
above
the
normal
range
and
estradiol
was
undetectable
.
Genetic
analysis
revealed
a
pattern
of
compound
heterozygosity
due
to
23
bp
deletion
in
exon
IV
and
a
point
mutation
in
the
first
nucleotide
of
intron
IX
of
the
CYP
19
A
1
gene
,
respectively
.
The
closure
of
epiphyseal
cartilage
,
the
normalization
of
bone
BMD
and
bone
turnover
markers
,
and
the
improvement
of
insulin
levels
were
reached
during
tE
2
only
when
serum
estradiol
raised
above
73
pmol
/
L
.
Sperm
parameters
and
overweight
did
not
improve
with
substitutive
therapy
.
This
new
case
of
aromatase
deficiency
underlines
the
role
of
estrogen
on
skeletal
maturation
,
BMD
,
metabolic
abnormalities
and
gonadal
axis
.
It
provides
evidence
on
the
need
not
only
of
a
continuous
estrogen
replacement
,
but
also
of
ensuring
adequate
estradiol
levels
in
serum
in
order
to
ensure
a
complete
bone
maturation
and
mineralization
and
to
prevent
the
worsening
of
body
skeletal
proportions
.
The
comprehension
of
this
physiological
aspect
has
relevant
clinical
significance
especially
for
the
development
of
new
therapeutic
strategies
useful
to
treat
growth
disorders
by
targeting
serum
estradiol
in
men
.
Diseases
Validation
Diseases presenting
"skeletal maturation"
symptom
aromatase deficiency
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