Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Current genetic issues and phenotypic variants in Kallmann syndrome].
[kallmann syndrome]
Kallmann
syndrome
is
characterized
by
hypogonadotropic
hypogonadism
and
anosmia
/
hyposmia
.
The
hypogonadotropic
hypogonadism
is
due
to
deficiency
of
gonadotropin-releasing
hormone
,
caused
by
a
defect
in
the
migration
of
neurons
synthesizing
gonadotropin-releasing
hormone
,
and
anosmia
/
hyposmia
is
related
to
the
absence
or
hypoplasia
of
the
olfactory
bulb
and
tracts
.
Some
patients
may
have
other
associated
abnormalities
such
as
renal
agenesis
,
cleft
palate
,
dental
agenesis
,
synkinesis
,
shortening
of
metacarpal
,
sensory
neural
hearing
loss
and
seizures
.
The
aim
of
this
paper
is
to
present
an
updated
review
of
the
clinical
and
molecular
basis
,
highlighting
the
relevance
of
knowledge
of
phenotypic
variants
in
Kallmann
syndrome
.
