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A 43-year-old male with untreated panhypopituitarism due to absence of the pituitary stalk: from dwarf to giant.
[aromatase deficiency]
A
43
-
yr
-old
male
was
referred
because
of
an
x-
ray
made
after
a
fall
,
which
showed
open
epiphysis
of
the
arm
.
The
man
had
always
been
short
for
his
age
;
during
childhood
he
once
consulted
a
pediatrician
because
of
short
stature
,
but
thereafter
he
never
sought
medical
attention
.
At
age
18
yr
he
was
not
allowed
to
join
the
army
because
of
his
height
of
147
cm
.
He
continued
to
grow
steadily
and
finally
reached
193
cm
.
He
had
no
complaints
and
considered
himself
reasonably
fit
.
Physical
examination
showed
a
disproportional
man
with
a
body
mass
index
of
29
.
3
kg
/
m
(
2
)
and
Tanner
stage
P
1
G
1
.
Laboratory
investigations
showed
hormone
levels
consistent
with
multiple
pituitary
deficiency
,
with
dynamic
tests
consistent
with
hypothalamic
or
pituitary
stalk
disease
.
Magnetic
resonance
scanning
of
the
brain
showed
a
small
anterior
pituitary
remnant
,
no
pituitary
stalk
,
and
an
ectopic
neurohypophysis
.
This
case
of
untreated
panhypopituitarism
shows
a
particular
growth
curve
with
an
average
growth
velocity
of
2
cm
/
yr
,
resembling
patients
with
estrogen
receptor
mutation
or
aromatase
deficiency
.
A
literature
study
of
other
adult
patients
with
untreated
panhypopituitarism
shows
a
variable
growth
pattern
.
Some
speculations
about
possible
reasons
for
this
variability
in
clinical
characteristics
are
presented
.
Diseases
Validation
Diseases presenting
"with dynamic tests consistent with hypothalamic or pituitary stalk disease"
symptom
aromatase deficiency
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