Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
PROKR2 mutations in autosomal recessive Kallmann syndrome.
[kallmann syndrome]
To
investigate
the
inheritance
pattern
of
two
missense
PROKR
2
changes
within
a
single
family
.
This
is
a
descriptive
study
.
Tertiary
referral
center
.
The
proband
and
his
brother
,
both
with
congenital
hypogonadotropic
hypogonadism
and
anosmia
(
Kallmann
syndrome
)
.
Clinical
and
biochemical
evaluation
of
Kallmann
syndrome
.
Sequence
analysis
of
the
coding
exons
and
exon-intron
boundaries
of
KAL
1
,
FGFR
1
,
FGF
8
,
PROK
2
,
and
PROKR
2
from
polymerase
chain
reaction
(
PCR
)
-
amplified
genomic
DNA
.
Recombinant
human
FSH
treatment
of
the
proband
.
Phenotypic
and
genotypic
features
,
and
inhibin
B
response
to
recombinant
human
FSH
.
T
he
proband
and
his
brother
were
homozygous
for
two
variants
in
PROKR
2
;
a
novel
mutation
c
.
701
G
>
A
(
p
.
G
234
D
)
,
and
a
polymorphism
c
.
802
C
>
T
(
p
.
R
268
C
)
.
Recombinant
human
FSH
therapy
of
the
proband
increased
serum
inhibin
B
from
<
16
to
136
ng
/
L
.
The
heterozygous
parents
were
fertile
and
had
six
children
.
These
findings
are
consistent
with
recessive
mode
of
inheritance
.
PROKR
2
signaling
does
not
directly
affect
Sertoli
cell
function
.
