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[Macroorchidism: a case report].
[aromatase deficiency]
Macroorchidism
is
a
rare
condition
in
children
and
is
usually
associated
with
fragile
X
syndrome
.
Other
possible
etiologies
of
macroorchidism
are
long
-standing
primary
hypothyroidism
,
adrenal
remnants
in
congenital
adrenal
hyperplasia
,
follicle
stimulating
hormone
(
FSH
)
-
secreting
pituitary
macroadenomas
,
local
tumors
,
lymphomas
,
and
aromatase
deficiency
.
Bilateral
macroorchidism
can
be
a
normal
variant
in
adult
men
.
We
report
the
case
of
an
11
.
5
-
year
-old
boy
who
was
referred
to
our
hospital
for
evaluation
of
marked
bilateral
testicular
enlargement
in
the
previous
few
months
.
Physical
examination
revealed
a
testicular
volume
larger
than
30
ml
.
Complementary
investigations
allowed
us
to
rule
out
all
hitherto
reported
etiologies
of
bilateral
macroorchidism
and
therefore
a
diagnosis
of
idiopathic
macroorchidism
was
established
.
The
increased
number
of
Sertoli
cells
found
on
biopsy
,
without
elevated
plasma
FSH
levels
,
prompted
us
to
speculate
about
a
hypothetical
FSH
receptor
hyperfunction
as
a
possible
cause
of
the
exaggerated
testicular
enlargement
in
this
patient
.
