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Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.
[kallmann syndrome]
Kallmann
Syndrome
(
KS
)
is
a
genetic
disease
of
embryonic
development
which
is
characterized
by
the
association
of
hypogonadotropic
hypogonadism
(
HH
)
due
to
a
deficit
of
the
gonadotropin-releasing
hormone
(
GnRH
)
and
a
hypo
/
anosmia
(
including
a
hypoplasia
of
the
nasal
sulcus
and
agenesis
of
the
olfactory
bulbs
)
.
Even
though
it
is
a
genotypically
and
phenotypically
heterogeneous
clinical
disease
,
there
are
some
key
genes
related
to
KS
(
KAL
1
,
FGFR
1
(
KAL
2
)
,
GNRHR
,
KISSR
1
(
GPR
54
)
,
GNRH
1
,
NELF
and
PROK
2
)
.
The
aim
of
this
study
was
to
present
a
case
report
of
a
genetic
diagnosis
of
KS
linked
to
the
presence
of
mutations
in
the
FGFR
1
(
fibroblast
growth
factor
receptor
1
,
also
known
as
KAL
2
)
gene
.
This
diagnosis
was
made
in
a
44
-
year
old
female
affected
by
a
hypogonadism
for
which
she
had
received
intermittent
treatment
until
she
was
30
years
old
based
on
the
patient
's
own
decision
.
The
molecular
analysis
of
FGFR
1
identified
the
mutation
c
.
246
_
247
delAG
(
p
.
T
82
Xfs
110
)
in
heterozygosis
on
exon
3
of
the
KAL
2
gene
.
This
is
the
first
report
of
this
mutation
related
to
idiopathic
hypogonadotrophic
hypogonadism
(
IHH
)
.
Diseases
Validation
Diseases presenting
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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