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Genetics of congenital hypogonadotropic hypogonadism in Denmark.
[kallmann syndrome]
Congenital
hypogonadotropic
hypogonadism
(
CHH
)
is
a
rare
disorder
characterized
by
incomplete
/
absent
puberty
caused
by
deficiency
or
defective
action
of
gonadotropin-releasing
hormone
(
GnRH
)
.
The
phenotypic
features
of
patients
with
CHH
vary
from
genital
hypoplasia
and
absent
puberty
to
reversal
of
HH
later
in
life
.
We
examined
the
genetics
and
clinical
features
of
CHH
in
Denmark
.
Forty
-
one
male
patients
were
screened
for
mutations
in
KAL
1
,
FGFR
1
,
FGF
8
,
PROK
2
,
PROKR
2
,
GNRHR
,
TAC
3
,
TACR
3
,
and
KISS
1
R
.
CHD
7
was
screened
in
two
patients
with
hearing
loss
.
In
12
patients
,
a
molecular
genetic
cause
for
CHH
was
found
.
Four
patients
had
mutations
in
KAL
1
(
C
105
VfsX
13
,
C
5
3
X
,
ex
5
-
8
del
,
R
257
X
)
,
and
five
in
FGFR
1
(
G
97
S
,
R
209
C
,
A
512
V
,
R
646
W
,
and
c
.
1614
C
>
T
,
(
p
.
I
538
I
)
,
predicted
to
affect
splicing
)
.
All
9
had
severe
HH
(
cryptorchidism
and
/
or
micropenis
)
,
and
2
had
cleft
lip
/
palate
.
One
patient
with
a
previously
reported
homozygous
R
262
Q
mutation
in
GNRHR
displayed
fascinating
temporal
variation
in
his
phenotype
.
Two
patients
with
hearing
loss
had
CHD
7
mutations
(
c
.
7832
_
7841
del
(
p
.
K
2611
MfsX
25
)
and
c
.
2443
-
2
A
>
C
)
,
confirming
that
CHH
patients
with
CHARGE
syndrome
-associated
features
should
be
screened
for
mutations
in
CHD
7
.
Diseases
Validation
Diseases presenting
"mutations in chd7"
symptom
kallmann syndrome
omenn syndrome
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