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Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
[kallmann syndrome]
A
subset
of
patients
diagnosed
with
idiopathic
hypogonadotropic
hypogonadism
(
IHH
)
later
achieves
activation
of
their
hypothalamic
-
pituitary
-
gonadal
axis
with
normalization
of
steroidogenesis
and
/
or
gametogenesis
,
a
phenomenon
termed
reversal
.
The
objective
of
this
study
was
to
determine
the
natural
history
of
reversal
and
to
identify
associated
phenotypes
and
genotypes
.
This
was
a
retrospective
review
of
clinical
,
biochemical
,
and
genetic
features
of
patients
with
IHH
evaluated
at
an
academic
medical
center
.
History
of
spontaneous
fertility
,
regular
menses
,
testicular
growth
,
or
normalization
of
serum
sex
steroids
,
LH
secretory
profiles
,
brain
imaging
findings
,
and
sequences
of
14
genes
associated
with
IHH
were
reviewed
.
Of
308
patients
with
IHH
,
44
underwent
reversal
.
Time-
to
-event
analysis
estimated
a
lifetime
incidence
of
reversal
of
22
%
.
There
were
no
differences
in
the
rates
of
cryptorchidism
,
micropenis
,
or
partial
pubertal
development
in
patients
with
reversal
vs
IHH
patients
without
reversal
.
Fifteen
patients
with
reversal
(
30
%
)
had
Kallmann
syndrome
(
IHH
and
anosmia
)
;
one
had
undetectable
olfactory
bulbs
on
a
brain
magnetic
resonance
imaging
scan
.
Subjects
with
reversal
were
enriched
for
mutations
affecting
neurokinin
B
signaling
compared
with
a
cohort
of
IHH
patients
without
reversal
(
10
%
vs
3
%
,
P
=
.
044
)
,
had
comparable
frequencies
of
mutations
in
FGFR
1
,
PROKR
2
,
and
GNRHR
,
and
had
no
mutations
in
KAL
1
.
Five
men
did
not
sustain
their
reversal
and
again
developed
hypogonadotropism
.
Reversal
of
IHH
may
be
more
widespread
than
previously
appreciated
and
occurs
across
a
broad
range
of
genotypes
and
phenotypes
.
Enrichment
for
mutations
that
disrupt
neurokinin
B
signaling
in
patients
who
reversed
indicates
that
,
despite
the
importance
of
this
signaling
pathway
for
normal
pubertal
timing
,
its
function
is
dispensable
later
in
life
.
The
occurrence
of
reversal
in
a
patient
with
no
olfactory
bulbs
demonstrates
that
these
structures
are
not
essential
for
normal
reproductive
function
.
Patients
with
IHH
require
lifelong
monitoring
for
reversal
and
,
if
reversal
occurs
,
subsequent
relapse
also
may
occur
.
Diseases
Validation
Diseases presenting
"mutations in fgfr1"
symptom
dentin dysplasia
kallmann syndrome
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