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The genetic basis of female reproductive disorders: etiology and clinical testing.
[kallmann syndrome]
With
the
advent
of
improved
molecular
biology
techniques
,
the
genetic
basis
of
an
increasing
number
of
reproductive
disorders
has
been
elucidated
.
Mutations
in
at
least
20
genes
cause
hypogonadotropic
hypogonadism
including
Kallmann
syndrome
in
about
35
-
40
%
of
patients
.
The
two
most
commonly
involved
genes
are
FGFR
1
and
CHD
7
.
When
combined
pituitary
hormone
deficiency
includes
hypogonadotropic
hypogonadism
as
a
feature
,
PROP
1
mutations
are
the
most
common
of
the
six
genes
involved
.
For
hypergonadotropic
hypogonadism
,
mutations
in
14
genes
cause
gonadal
failure
in
15
%
of
affected
females
,
most
commonly
in
FMR
1
.
In
eugonadal
disorders
,
activating
FSHR
mutations
have
been
identified
for
spontaneous
ovarian
hyperstimulation
syndrome
;
and
WNT
4
mutations
have
been
described
in
mullerian
aplasia
.
For
other
eugonadal
disorders
,
such
as
endometriosis
,
polycystic
ovary
syndrome
,
and
leiomyomata
,
specific
germline
gene
mutations
have
not
been
identified
,
but
some
chromosomal
regions
are
associated
with
the
corresponding
phenotype
.
Practical
genetic
testing
is
possible
to
perform
in
both
hypogonadotropic
and
hypergonadotropic
hypogonadism
and
spontaneous
ovarian
hyperstimulation
syndrome
.
However
,
clinical
testing
for
endometriosis
,
polycystic
ovary
syndrome
,
and
leiomyomata
is
not
currently
practical
for
the
clinician
.
Diseases
Validation
Diseases presenting
"polycystic ovary syndrome"
symptom
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
kallmann syndrome
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