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Long-term management of patients with disorders of sex development (DSD).
[congenital adrenal hyperplasia]
Differences
or
disorders
of
sex
development
(
DSD
)
describe
a
biological
discrepancy
between
chromosomal
,
gonadal
,
and
phenotypical
sex
,
often
affecting
the
morphology
of
the
genito-reproductive
organs
.
DSD
is
most
often
due
to
genetic
abnormalities
affecting
chromosomal
composition
or
single
genes
.
Most
children
with
46
,
XX
karyotype
and
DSD
have
congenital
adrenal
hyperplasia
due
to
21
-
hydroxylase
deficiency
and
should
be
regarded
as
unchallenged
females
.
For
children
with
46
,
XY
DSD
,
the
situation
is
even
much
more
complicated
since
indeed
an
exact
genetic
diagnosis
is
still
missing
.
Depending
on
the
phenotype
,
this
may
be
true
for
more
than
80
%
of
children
with
severe
hypospadias
,
in
contrast
in
post-pubertal
patients
with
clinical
evidence
of
complete
androgen
insensitivity
,
whom
95
%
show
an
underlying
mutation
within
the
androgen
receptor
gene
.
DSD
and
numerical
aberrations
of
sex
chromosomes
,
especially
45
,
X
/
46
,
XY
mosaicism
depends
essentially
on
the
assessment
of
the
exact
clinical
morphology
with
a
focus
of
the
external
and
internal
genital
structures
and
of
the
endocrine
and
reproductive
function
of
the
gonads
with
the
aim
for
a
best
prognosis
of
the
child
.
This
assessment
should
be
done
in
a
center
of
expertise
.
Diseases
Validation
Diseases presenting
"genetic abnormalities affecting chromosomal composition or single genes"
symptom
congenital adrenal hyperplasia
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