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[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism].
[kallmann syndrome]
The
purpose
of
this
study
was
to
determine
the
prevalence
of
KAL
1
,
GNRH
1
,
GNRHR
,
PROK
2
,
and
PROKR
2
copy
numbervariations
in
patients
with
idiopathic
hypogonadotropic
hypogonadism
(
IHH
)
.
86
hypogonadal
males
(
76
diagnosed
with
normosmic
idiopathic
hypogonadotropic
hypogonadism
[
nIHH
]
andten
with
Kallmann
syndrome
[
KS
]
)
and
95
healthy
control
individuals
were
studied
for
the
presence
of
aforementioned
genomic
rearrangements
,
using
multiplex
ligation
dependent
probe
amplification
(
MLPA
)
.
We
detected
that
of
the
86
patients
,
three
with
KS
had
a
deletion
of
the
KAL
1
gene
in
exon
9
,
one
of
whom
also
carried
a
duplicationin
exon
11
;
and
three
with
nIHH
had
a
duplication
of
the
PROK
2
gene
in
exon
3
;
a
deletion
of
the
GNRHR
gene
in
exon
1
;
anda
duplication
of
the
same
gene
in
exon
2
,
respectively
.
No
abnormalities
were
found
in
the
patient
group
for
the
PROKR
2
and
GNRH
1
genes
.
In
addition
,
no
genomic
rearrangements
were
identified
in
the
healthy
control
individuals
for
the
described
genes
.
Defining
the
genetic
basis
of
disease
is
essential
to
improve
our
understanding
of
this
complex
disorder
,
and
could
be
usefulfor
genetic
counselling
and
for
directing
therapy
.
In
addition
,
discovering
the
association
between
genetic
mutations
and
disease
isimportant
for
our
better
understanding
of
normal
reproductive
functions
.
Diseases
Validation
Diseases presenting
"normal reproductive functions"
symptom
kallmann syndrome
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