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Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
[kallmann syndrome]
Congenital
hypogonadotropic
hypogonadism
(
HH
)
is
a
rare
cause
for
delayed
or
absent
puberty
.
These
patients
may
recover
from
HH
spontaneously
in
adulthood
.
To
date
,
it
is
not
possible
to
predict
who
will
undergo
HH
reversal
later
in
life
.
Herein
we
investigated
whether
Finnish
patients
with
reversal
of
congenital
hypogonadotropic
hypogonadism
(
HH
)
have
common
phenotypic
or
genotypic
features
.
Thirty
-
two
male
HH
patients
with
anosmia
/
hyposmia
(
Kallmann
Syndrome
,
KS
;
n
=
26
)
or
normal
sense
of
smell
(
nHH
;
n
=
6
)
were
enrolled
(
age
range
,
18
-
61
yrs
)
.
The
patients
were
clinically
examined
,
and
reversal
of
HH
was
assessed
after
treatment
withdrawal
.
KAL
1
,
FGFR
1
,
FGF
8
,
PROK
2
,
PROKR
2
,
CHD
7
,
WDR
11
,
GNRHR
,
GNRH
1
,
KISS
1
R
,
KISS
1
,
TAC
3
,
TACR
3
,
and
LHβ
were
screened
for
mutations
.
Six
HH
patients
(
2
KS
,
4
nHH
)
were
verified
to
have
reversal
of
HH
.
In
the
majority
of
cases
,
reversal
occurred
early
in
adulthood
(
median
age
,
23
yrs
;
range
,
21
-
39
yrs
)
.
All
had
spontaneous
testicular
growth
while
on
testosterone
replacement
therapy
(
TRT
)
.
One
nHH
subject
was
restarted
on
TRT
due
to
a
decline
in
serum
T
.
Two
reversal
variants
had
a
same
GNRHR
mutation
(
R
262
Q
)
,
which
was
accompanied
by
another
GNRHR
mutation
(
R
139
H
or
del
309
F
)
.
In
addition
,
both
of
the
KS
patients
had
a
mutation
in
CHD
7
(
p
.
Q
51
X
)
or
FGFR
1
(
c
.
91
+
2
T
>
A
)
.
Considerable
proportion
of
patients
with
HH
(
8
%
of
KS
probands
)
may
recover
in
early
adulthood
.
Spontaneous
testicular
enlargement
during
TRT
was
highly
suggestive
for
reversal
of
HH
.
Those
with
the
GNRHR
mutation
R
262
Q
accompanied
by
another
GNRHR
mutation
may
be
prone
to
reversal
,
although
even
patients
with
a
truncating
mutation
in
CHD
7
or
a
splice-site
mutation
in
FGFR
1
can
recover
.
We
recommend
that
all
adolescents
and
young
adults
with
congenital
HH
should
be
informed
on
the
possibility
of
reversal
.
Diseases
Validation
Diseases presenting
"early adulthood"
symptom
22q11.2 deletion syndrome
kallmann syndrome
oculocutaneous albinism
pendred syndrome
werner syndrome
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