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[Congenital hypogonadotropic hypogonadism and Kallmann syndrome in males].
[kallmann syndrome]
Congenital
hypogonadotropic
hypogonadism
(
CHH
)
and
Kallmann
syndrome
(
KS
)
are
a
group
of
rare
disorders
responsible
for
complete
or
partial
pubertal
failure
due
to
lack
or
insufficient
secretion
of
the
pituitary
gonadotropins
LH
and
FSH
.
The
underlying
neuroendocrine
abnormalities
are
classically
divided
into
two
main
groups
:
molecular
defects
of
the
gonadotrope
cascade
leading
to
isolated
normosmic
CHH
(
nCHH
)
,
and
developmental
abnormalities
affecting
the
hypothalamic
location
of
GnRH
neurons
,
but
also
olfactory
bulbs
and
tracts
morphogenesis
and
responsible
for
KS
.
Identification
of
genetic
abnormalities
related
to
CHH
/
KS
has
provided
major
insights
into
the
pathways
critical
for
the
development
,
maturation
and
function
of
the
gonadotrope
axis
.
In
patients
affected
by
nCHH
,
particularly
in
familial
cases
,
genetic
alterations
affecting
GnRH
secretion
(
mutations
in
GNRH
1
,
GPR
54
/
KISS
1
R
and
TAC
3
and
TACR
3
)
or
the
GnRH
sensitivity
of
gonadotropic
cells
(
GNRHR
)
have
been
found
.
Mutations
in
KAL
1
,
FGFR
1
/
FGF
8
/
FGF
17
,
PROK
2
/
PROKR
2
,
NELF
,
CHD
7
,
HS
6
ST
1
,
WDR
11
,
SEMA
3
A
,
SOX
10
,
IL
17
RD
2
,
DUSP
6
,
SPRY
4
,
and
FLRT
3
have
been
associated
with
KS
but
sometimes
also
with
its
milder
hyposmic
/
normosmic
CHH
clinical
variant
.
A
number
of
observations
,
particularly
in
sporadic
cases
,
suggest
that
CHH
/
KS
is
not
always
a
monogenic
mendelian
disease
as
previously
thought
but
rather
a
digenic
or
potentially
oligogenic
condition
.
Before
the
age
of
18
years
,
the
main
differential
diagnosis
of
isolated
nCHH
is
the
relatively
frequent
constitutional
delay
of
growth
and
puberty
(
CDGP
)
.
However
,
in
male
patients
with
pubertal
delay
and
low
gonadotropin
levels
,
the
presence
of
micropenis
and
/
or
cryptorchidism
argues
strongly
in
favor
of
CHH
and
against
CDGP
.
CHH
/
KS
are
not
always
congenital
life-
long
disorders
as
initially
thought
,
because
in
nearly
10
%
of
patients
the
disease
seems
not
permanent
,
as
evidenced
by
partial
recovery
of
the
pulsatile
activity
of
the
hypothalamic
-
pituitary
-
gonadal
axis
after
discontinuation
of
treatment
in
adulthood
(
the
so
-called
reversible
CHH
/
KS
)
.
The
clinical
and
hormonal
diagnosis
and
the
therapeutic
management
as
well
as
the
genetic
counseling
of
these
patients
will
be
discussed
here
based
on
the
experience
acquired
in
our
department
during
the
past
30
years
,
from
monitoring
more
than
400
patients
with
these
rare
conditions
.
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