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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
)
.
