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Clinical Case Seminar. Peculiar prolactinomas in patients with pituitary developmental gene mutations: from an adult endocrinologist perspective.
[kallmann syndrome]
Congenital
hypopituitarism
is
a
syndrome
which
is
associated
with
single
or
multiple
pituitary
hormone
deficiencies
.
Mutations
in
a
number
of
developmental
genes
have
been
linked
to
combined
pituitary
hormone
deficiencies
,
the
most
common
being
mutation
in
the
pituitary
homeobox
protein
prophet
of
the
Pit
1
gene
(
PROP
1
)
.
PROP
1
exhibits
DNA-binding
and
transcriptional
activities
.
On
magnetic
resonance
imaging
,
most
patients
with
PROP
1
mutation
have
a
hypoplastic
pituitary
gland
.
Occasionally
,
transient
pituitary
enlargement
before
definite
involution
is
reported
.
Kallmann
syndrome
(
KS
)
is
a
human
developmental
genetic
disorder
which
is
a
clinically
(
isolated
hypogonadotropic
hypogonadism
-
IHH
)
and
genetically
heterogeneous
disease
.
Routine
neuroimaging
in
classical
IHH
is
thought
to
be
of
limited
clinical
value
and
normal
anatomy
of
the
hypothalamic
-
pituitary
region
is
often
reported
.
For
neither
disorder
are
there
many
reports
on
imaging
during
adulthood
.
Nor
are
there
any
guidelines
concerning
long
-term
imaging
follow-up
in
patients
with
developmental
pituitary
disorders
.
Our
aim
was
to
present
unusual
endocrine
and
imaging
abnormalities
which
developed
in
adulthood
in
two
patients
with
developmental
pituitary
disorders
.
We
report
a
female
with
combined
pituitary
hormone
deficiencies
(
GH
,
TSH
,
gonadotropin
and
ACTH
)
,
except
for
prolactin
,
as
a
consequence
of
PROP
1
mutation
,
and
a
male
with
KS
(
anosmia
and
IHH
)
due
to
Kal
2
gene
(
fibroblast
growth
factor
receptor
1
-
FGFR
1
)
mutation
,
both
of
whom
in
adulthood
presented
with
prolactinomas
.
Both
patients
with
developmental
gene
mutations
,
after
long
-term
correction
of
their
sex
steroid
status
,
developed
prolactinomas
.
Although
the
exact
mechanism
of
pituitary
tumorigenesis
is
not
known
,
we
speculate
that
sex
steroids
may
have
facilitated
prolactinoma
development
from
the
prolactin
cell
pool
which
underwent
uncontrolled
proliferation
in
the
setting
of
a
developmental
disorder
.
Diseases
Validation
Diseases presenting
"enlargement before definite involution"
symptom
kallmann syndrome
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