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Approach to the male patient with congenital hypogonadotropic hypogonadism.
[kallmann syndrome]
The
term
"
congenital
hypogonadotropic
hypogonadism
"
(
CHH
)
refers
to
a
group
of
disorders
featuring
complete
or
partial
pubertal
failure
due
to
insufficient
secretion
of
the
pituitary
gonadotropins
LH
and
FSH
.
Many
boys
(
or
their
parents
)
will
seek
medical
consultation
because
of
partial
or
absent
virilization
after
14
yr
of
age
.
Small
testes
are
very
frequent
,
but
height
is
generally
normal
.
Laboratory
diagnosis
of
hypogonadotropic
hypogonadism
is
relatively
simple
,
with
very
low
circulating
total
testosterone
and
low
to
low
-normal
gonadotropin
and
inhibin
B
levels
.
This
hormone
profile
rules
out
a
primary
testicular
disorder
.
Before
diagnosing
CHH
,
however
,
it
is
necessary
to
rule
out
a
pituitary
tumor
or
pituitary
infiltration
by
imaging
studies
,
juvenile
hemochromatosis
,
and
a
systemic
disorder
that
,
by
undermining
nutritional
status
,
could
affect
gonadotropin
secretion
and
pubertal
development
.
Anterior
pituitary
function
must
be
thoroughly
investigated
to
rule
out
a
more
complex
endocrine
disorder
with
multiple
hormone
deficiencies
and
thus
to
conclude
that
the
hypogonadotropic
hypogonadism
is
isolated
.
The
most
likely
differential
diagnosis
before
age
18
yr
is
constitutional
delay
of
puberty
.
Apart
from
non-
Kallmann
syndromic
forms
,
which
are
often
diagnosed
during
childhood
,
the
two
main
forms
of
CHH
seen
by
endocrinologists
are
Kallmann
syndrome
,
in
which
CHH
is
associated
with
impaired
sense
of
smell
,
and
isolated
CHH
with
normal
olfaction
.
Anosmia
can
be
easily
diagnosed
by
questioning
the
patient
,
whereas
olfactometry
is
necessary
to
determine
reliably
whether
olfaction
is
normal
or
partially
defective
.
This
step
is
important
before
embarking
on
a
search
for
genetic
mutations
,
which
will
also
be
useful
for
genetic
counseling
.
The
choice
of
a
particular
hormone
replacement
therapy
protocol
aimed
at
virilizing
the
patient
will
depend
on
age
at
diagnosis
and
local
practices
.
Diseases
Validation
Diseases presenting
"insufficient secretion of the pituitary gonadotropins lh"
symptom
kallmann syndrome
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