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Transition in endocrinology: induction of puberty.
[kallmann syndrome]
Puberty
is
the
period
during
which
we
attain
adult
secondary
sexual
characteristics
and
reproductive
capability
.
Its
onset
depends
upon
reactivation
of
pulsative
GNRH
,
secretion
from
its
relative
quiescence
during
childhood
,
on
the
background
of
intact
potential
for
pituitary
-
gonadal
function
.
This
review
is
intended
:
to
highlight
those
current
practices
in
diagnosis
and
management
that
are
evidence
based
and
those
that
are
not
;
to
help
clinicians
deal
with
areas
of
uncertainty
with
reference
to
physiologic
first
principles
;
by
sign-posting
relevant
data
arising
from
other
patient
groups
with
shared
issues
;
to
illustrate
how
recent
scientific
advances
are
(
or
should
be
)
altering
clinician
perceptions
of
pubertal
delay
;
and
finally
,
to
emphasise
that
the
management
of
men
and
women
presenting
in
advanced
adult
life
with
absent
puberty
can
not
simply
be
extrapolated
from
paediatric
practice
.
There
is
a
broad
spectrum
of
pubertal
timing
that
varies
among
different
populations
,
separated
in
time
and
space
.
Delayed
puberty
usually
represents
an
extreme
of
the
normal
,
a
developmental
pattern
referred
to
as
constitutional
delay
of
growth
and
puberty
(
CDGP
)
,
but
organic
defects
of
the
hypothalamo-
pituitary
-
gonadal
axis
predisposing
to
hypogonadism
may
not
always
be
initially
distinguishable
from
it
.
CDGP
and
organic
,
or
congenital
hypogonadotrophic
hypogonadism
are
both
significantly
more
common
in
boys
than
girls
.
Moreover
,
around
1
/
3
of
adults
with
organic
hypogonadotrophic
hypogonadism
had
evidence
of
partial
puberty
at
presentation
and
,
confusingly
,
some
5
-
10
%
of
these
subsequently
may
exhibit
recovery
of
endogenous
gonadotrophin
secretion
,
including
men
with
Kallmann
syndrome
.
However
,
the
distinction
is
crucial
as
expectative
(
'
watch-and-wait
'
)
management
is
inappropriate
in
the
context
of
hypogonadism
.
The
probability
of
pubertal
delay
being
caused
by
organic
hypogonadism
rises
exponentially
both
with
increasing
age
at
presentation
and
the
presence
of
associated
'
red
flag
'
clinical
features
.
These
'
red
flags
'
comprise
findings
indicating
lack
of
prior
'
mini-puberty
'
(
such
as
cryptorchidism
or
micropenis
)
,
or
the
presence
of
non-reproductive
congenital
defects
known
to
be
associated
with
specific
hypogonadal
syndromes
,
e
.
g
.
anosmia
,
deafness
,
mirror
movements
,
renal
agenesis
,
dental
/
digital
anomalies
,
clefting
or
coloboma
would
be
compatible
with
Kallmann
(
or
perhaps
CHARGE
)
syndrome
.
In
children
,
interventions
(
whether
in
the
form
or
treatment
or
simple
reassurance
)
have
been
historically
directed
at
maximising
height
potential
and
minimising
psychosocial
morbidity
,
though
issues
of
future
fertility
and
bone
density
potential
are
now
increasingly
'
in
the
mix
'
.
Apubertal
adults
almost
invariably
harbour
organic
hypogonadism
,
requiring
sensitive
acknowledgement
of
underlying
personal
issues
and
the
timely
introduction
of
sex
hormone
replacement
therapy
at
more
physiological
doses
.
Diseases
Validation
Diseases presenting
"organic hypogonadism rises exponentially both with increasing age at presentation"
symptom
kallmann syndrome
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