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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
[kallmann syndrome]
The
Kallmann
syndrome
is
characterised
by
the
association
of
hypogonadotropic
hypogonadism
and
hypo
/
anosmia
.
It
represents
a
phenotypically
and
genotypically
heterogeneous
clinical
entity
,
with
six
genes
identified
so
far
in
the
literature-
KAL
1
,
FGFR
1
,
PROKR
2
,
PROK
2
,
CHD
7
and
FGF
8
.
Mutations
in
the
FGFR
1
gene
can
be
found
in
approximately
10
%
of
the
patients
.
The
authors
present
the
case
of
a
female
adolescent
with
hypogonadotropic
hypogonadism
and
impaired
olfactory
acuity
in
the
presence
of
hypoplasia
of
the
nasal
sulcus
and
agenesis
of
the
olfactory
bulbs
.
The
molecular
analysis
of
the
fibroblast
growth
factor
receptor
1
identified
a
heterozygous
mutation
c
.
1377
_
78
insA
(
p
.
V
460
SfsX
3
)
in
exon
10
of
FGFR
1
gene
.
This
mutation
has
not
yet
been
reported
in
the
literature
.
A
theoretical
review
of
clinical
features
and
therapeutic
approach
of
this
syndrome
is
also
presented
.
Diseases
Validation
Diseases presenting
"genotypically heterogeneous clinical entity"
symptom
kallmann syndrome
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