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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
[kallmann syndrome]
The
neuroendocrine
control
of
reproduction
in
mammals
is
governed
by
a
neural
hypothalamic
network
of
nearly
1500
gonadotropin-releasing
hormone
(
GnRH
)
secreting
neurons
that
modulate
the
activity
of
the
reproductive
axis
across
life
.
Congenital
hypogonadotropic
hypogonadism
(
HH
)
is
a
clinical
syndrome
that
is
characterized
by
partial
or
complete
pubertal
failure
.
HH
may
result
from
inadequate
hypothalamic
GnRH
axis
activation
,
or
a
failure
of
pituitary
gonadotropin
secretion
/
effects
.
In
man
,
several
genes
that
participate
in
olfactory
and
GnRH
neuronal
migration
are
thought
to
interact
during
the
embryonic
life
.
A
growing
number
of
mutations
in
different
genes
are
responsible
for
congenital
HH
.
Based
on
the
presence
or
absence
of
olfaction
dysfunction
,
HH
is
divided
in
two
syndromes
:
HH
with
olfactory
alterations
[
Kallmann
syndrome
(
KS
)
]
and
idiopathic
hypogonadotropic
hypogonadism
(
IHH
)
with
normal
smell
(
normosmic
IHH
)
.
KS
is
a
heterogeneous
disorder
affecting
1
in
5000
males
,
with
a
three
to
fivefold
of
males
over
females
.
KS
is
associated
with
mutations
in
KAL
1
,
FGFR
1
/
FGF
8
,
FGF
17
,
IL
17
RD
,
PROK
2
/
PROKR
2
,
NELF
,
CHD
7
,
HS
6
ST
1
,
FLRT
3
,
SPRY
4
,
DUSP
6
,
SEMA
3
A
,
NELF
,
and
WDR
11
genes
that
are
related
to
defects
in
neuronal
migration
.
These
reproductive
and
olfactory
deficits
include
a
variable
non-reproductive
phenotype
,
including
sensorineural
deafness
,
coloboma
,
bimanual
synkinesis
,
craniofacial
abnormalities
,
and
/
or
renal
agenesis
.
Interestingly
,
defects
in
PROKR
2
,
FGFR
1
,
FGF
8
,
CHD
7
,
DUSP
6
,
and
WDR
11
genes
are
also
associated
with
normosmic
IHH
,
whereas
mutations
in
KISS
1
/
KISSR
,
TAC
3
/
TACR
3
,
GNRH
1
/
GNRHR
,
LEP
/
LEPR
,
HESX
1
,
FSHB
,
and
LHB
are
only
present
in
patients
with
normosmic
IHH
.
In
this
paper
,
we
summarize
the
reproductive
,
neurodevelopmental
,
and
genetic
aspects
of
HH
in
human
pathology
.
Diseases
Validation
Diseases presenting
"neuronal migration"
symptom
kallmann syndrome
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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