Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Genetic aspects of hypothalamic and pituitary gland development.
[kallmann syndrome]
Hypothalamo-
pituitary
development
during
embryogenesis
is
a
highly
complex
process
involving
the
interaction
of
a
network
of
spatiotemporally
regulated
signaling
molecules
and
transcription
factors
.
Mutations
in
any
of
the
genes
encoding
these
components
can
lead
to
congenital
hypopituitarism
,
which
is
often
associated
with
a
wide
spectrum
of
defects
affecting
craniofacial
/
midline
development
.
In
turn
,
these
defects
can
be
incompatible
with
life
,
or
lead
to
disorders
encompassing
holoprosencephaly
(
HPE
)
and
cleft
palate
,
and
septo-
optic
dysplasia
(
SOD
)
.
In
recent
years
,
there
has
been
increasing
evidence
of
an
overlapping
genotype
between
this
spectrum
of
disorders
and
Kallmann
syndrome
(
KS
)
,
defined
as
the
association
of
hypogonadotropic
hypogonadism
(
HH
)
and
anosmia
.
This
is
consistent
with
the
known
phenotypic
overlap
between
these
disorders
and
opens
a
new
avenue
of
identifying
novel
genetic
causes
of
the
hypopituitarism
spectrum
.
This
chapter
reviews
the
genetic
and
molecular
events
leading
to
the
successful
development
of
the
hypothalamo-
pituitary
axis
during
embryogenesis
,
and
focuses
on
genes
in
which
variations
/
mutations
occur
,
leading
to
congenital
hypopituitarism
and
associated
defects
.
