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Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.
[aromatase deficiency]
There
have
been
considerable
advances
concerning
understanding
of
the
early
and
later
stages
of
ovarian
development
;
a
number
of
genes
have
been
implicated
and
their
mutations
have
been
associated
with
developmental
abnormalities
.
The
most
important
genes
controlling
the
initial
phase
of
gonadal
development
,
identical
in
females
and
males
,
are
Wilms
'
tumor
suppressor
1
(
WT
1
)
and
steroidogenic
factor
1
(
SF
1
)
.
Four
genes
are
likely
to
be
involved
in
the
subsequent
stages
of
ovarian
development
(
WNT
4
,
DAX
1
,
FOXL
2
and
RSPO
1
)
,
but
none
is
yet
proven
to
be
the
ovarian
determining
factor
.
Changes
in
nomenclature
and
classification
were
recently
proposed
in
order
to
incorporate
genetic
advances
and
substitute
gender-based
diagnostic
labels
in
terminology
.
The
term
"
disorders
of
sex
development
"
(
DSD
)
is
proposed
to
substitute
the
previous
term
"
intersex
disorders
"
.
Three
main
categories
have
been
used
to
describe
DSD
in
the
46
,
XX
individual
:
1
)
disorders
of
gonadal
(
ovarian
)
development
:
ovotesticular
DSD
,
previously
named
true
hermaphroditism
,
testicular
DSD
,
previously
named
XX
males
,
and
gonadal
dysgenesis
;
2
)
disorders
related
to
androgen
excess
(
congenital
adrenal
hyperplasia
,
aromatase
deficiency
and
P
450
oxidoreductase
deficiency
)
;
and
3
)
other
rare
disorders
.
In
this
mini-review
,
recent
advances
concerning
development
of
the
genital
system
in
46
,
XX
individuals
and
related
abnormalities
are
discussed
.
Basic
embryology
of
the
ovary
and
molecular
pathways
determining
ovarian
development
are
reviewed
,
focusing
on
mutations
disrupting
normal
ovarian
development
.
Disorders
of
sex
development
according
to
the
revised
nomenclature
and
classification
in
46
,
XX
individuals
are
summarized
,
including
genetic
progress
in
the
field
.
Diseases
Validation
Diseases presenting
"congenital adrenal hyperplasia"
symptom
adrenal incidentaloma
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
phenylketonuria
This symptom has already been validated
