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Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.
[aromatase deficiency]
We
present
the
fourth
case
of
an
adult
man
(
29
yr
old
)
affected
by
aromatase
deficiency
resulting
from
a
novel
homozygous
inactivating
mutation
of
the
CYP
19
(
P
450
(
arom
)
)
gene
.
At
first
observation
,
continuing
linear
growth
,
eunuchoid
body
proportions
,
diffuse
bone
pain
,
and
bilateral
cryptorchidism
were
observed
.
The
patient
presented
also
a
complex
dysmetabolic
syndrome
characterized
by
insulin
resistance
,
diabetes
mellitus
type
2
,
acanthosis
nigricans
,
liver
steatohepatitis
,
and
signs
of
precocious
atherogenesis
.
The
analysis
of
the
effects
induced
by
the
successive
treatment
with
high
doses
of
testosterone
,
alendronate
,
and
estradiol
allows
further
insight
into
the
roles
of
androgens
and
estrogens
on
several
metabolic
functions
.
High
doses
of
testosterone
treatment
resulted
in
a
severe
imbalance
in
the
estradiol
to
testosterone
ratio
together
with
the
occurrence
of
insulin
resistance
and
diabetes
mellitus
type
2
.
Estrogen
treatment
resulted
in
an
improvement
of
acanthosis
nigricans
,
insulin
resistance
,
and
liver
steatohepatitis
,
coupled
with
a
better
glycemic
control
and
the
disappearance
of
two
carotid
plaques
.
Furthermore
,
the
study
confirms
previous
data
concerning
the
key
role
of
estrogens
on
male
bone
maturation
,
at
least
in
part
,
and
regulation
of
gonadotropin
secretion
.
The
biopsy
of
the
testis
showed
a
pattern
of
total
germ
cell
depletion
that
might
be
due
to
the
concomitant
presence
of
bilateral
cryptorchidism
.
Thus
,
a
possible
role
of
estrogen
in
male
reproductive
function
is
suggested
but
without
revealing
a
direct
cause-effect
relationship
.
Data
from
this
case
provide
new
insights
into
the
role
of
estrogens
in
glucose
,
lipid
,
and
liver
metabolism
in
men
.
This
new
case
of
aromatase
deficiency
confirms
previous
data
on
bone
maturation
and
mineralization
,
and
it
reveals
a
high
risk
for
the
precocious
development
of
cardiovascular
disease
in
young
aromatase-
deficient
men
.
Diseases
Validation
Diseases presenting
"acanthosis nigricans"
symptom
achondroplasia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
