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Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges.
[kallmann syndrome]
What
controls
puberty
remains
largely
unknown
,
and
current
gene
mutations
account
for
only
about
one
-
third
of
the
apparently
genetic
cases
of
idiopathic
hypogonadotropic
hypogonadism
.
Lately
,
important
developments
have
occurred
in
this
field
.
The
neuroendocrine
control
of
reproduction
in
all
mammals
is
governed
by
a
hypothalamic
neural
network
of
approximately
1500
gonadotropin-releasing
hormone
(
GnRH
)
secreting
neurons
that
control
the
activity
of
the
reproductive
axis
across
life
.
Recently
,
the
syndrome
of
human
GnRH
deficiency
,
either
with
anosmia
,
termed
Kallmann
syndrome
,
or
with
a
normal
sense
of
smell
,
termed
normosmic
idiopathic
hypogonadotropic
hypogonadism
,
has
proven
to
be
important
disease
models
that
have
revealed
much
about
the
abnormalities
that
can
befall
the
GnRH
neurons
as
they
differentiate
,
migrate
,
form
networks
,
mature
and
senesce
.
Mutations
in
several
genes
responsible
for
these
highly
coordinated
developmental
processes
have
thus
been
unearthed
by
the
study
of
this
prismatic
disease
model
.
These
genetic
studies
have
opened
up
a
new
chapter
in
the
physiology
and
the
pharmacology
of
the
gonadotropic
axis
.
Diseases
Validation
Diseases presenting
"apparently genetic cases"
symptom
kallmann syndrome
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