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Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.
[kallmann syndrome]
The
majority
of
the
patients
reported
with
mutations
in
isolated
hypogonadotropic
hypogonadism
(
HH
)
are
adults
.
We
analysed
the
presentation
and
the
plasma
inhibin
B
and
anti-müllerian
hormone
(
AMH
)
concentrations
during
childhood
and
adolescence
,
and
compared
them
to
the
genetic
results
.
This
was
a
retrospective
,
single
-center
study
of
46
boys
with
HH
.
Fourteen
(
30
.
4
%
)
had
Kallmann
syndrome
(
KS
)
,
4
(
8
.
7
%
)
had
CHARGE
syndrome
and
28
(
60
.
9
%
)
had
HH
without
olfaction
deficit
nor
olfactive
bulb
hypoplasia
.
Eighteen
(
39
%
)
had
an
associated
malformation
or
syndromes
.
At
diagnosis
,
22
(
47
.
8
%
)
boys
were
aged
<
one
year
,
9
(
19
%
)
1
-
11
and
15
(
32
.
6
%
)
11
-
17
.
6
years
.
They
presented
with
micropenis
(
n
=
32
,
69
.
6
%
,
including
all
those
<
one
year
)
,
cryptorchidism
(
n
=
32
,
69
.
6
%
,
unilateral
in
8
,
bilateral
in
24
)
,
and
/
or
pubertal
delay
(
n
=
11
)
.
The
plasma
inhibin
B
concentrations
were
normal
in
8
(
3
KS
including
one
CHARGE
and
5
other
HH
)
,
at
the
lower
limit
of
the
normal
in
6
and
decreased
in
13
(
48
%
)
boys
.
The
AMH
concentrations
were
normal
in
15
(
6
KS
including
one
CHARGE
and
9
other
HH
)
and
decreased
in
12
(
44
%
)
boys
.
In
addition
to
the
CHD
7
gene
mutations
in
4
patients
with
CHARGE
,
mutations
were
found
in
5
/
26
other
boys
analysed
including
one
in
KAL
1
gene
with
STS
,
2
in
FGFR
1
gene
,
one
in
PROKR
2
gene
and
one
in
GnRHR
gene
.
The
presence
of
micropenis
in
neonate
,
particularly
if
associated
with
cryptorchidism
,
is
an
indication
to
look
for
gonadotropin
deficiency
isolated
or
associated
with
other
hypothalamic
-
pituitary
deficiencies
.
Inhibin
B
and
AMH
concentrations
are
suggestive
if
low
,
but
they
may
be
normal
.
Despite
the
high
frequency
of
the
associated
malformations
and
excluding
the
patients
with
CHARGE
or
ichtyosis
,
the
4
patients
with
mutations
had
no
family
history
or
malformation
.
This
suggests
that
many
other
genes
are
involved
.
Diseases
Validation
Diseases presenting
"cryptorchidism"
symptom
alpha-thalassemia
aromatase deficiency
hirschsprung disease
kallmann syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated