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Surgical reconstruction of the genitalia in a 3-year-old infant with a 46XX karyotype: case report.
[congenital adrenal hyperplasia]
A
3
-
year
-old
patient
was
hospitalized
with
ambiguous
genitalia
(
clitoromegaly
,
labioscrotal
fusion
,
absence
of
vaginal
introitus
)
,
classified
as
stage
III
/
IV
according
to
Prader
's
virilization
scale
.
Our
patient
,
with
a
46
XX
karyotype
,
was
previously
diagnosed
with
congenital
adrenal
hyperplasia
caused
by
a
deficiency
of
the
adrenal
enzyme
21
-
hydroxylase
;
corticosteroids
and
salt
replacement
therapy
have
been
used
.
At
the
present
admission
,
the
surgical
treatment
consisted
on
clitoroplasty
(
with
the
removal
of
erectile
tissue
)
,
reconstruction
of
the
labia
minor
,
creation
of
a
neovulva
and
vaginoplasty
.
It
was
a
single
-step
operation
to
restore
the
anatomical
female
structures
.
She
had
an
uneventful
postoperative
period
and
the
wound
healed
well
with
good
cosmetic
results
.
We
present
the
details
about
the
surgical
procedure
and
a
short
review
of
data
from
literature
.
This
journal
requires
that
authors
assign
a
level
of
evidence
to
each
article
.
For
a
full
description
of
these
Evidence-
Based
Medicine
ratings
,
please
refer
to
the
Table
of
Contents
or
the
online
Instructions
to
Authors
www
.
springer
.
com
/
00266
.
Diseases
Validation
Diseases presenting
"salt replacement therapy"
symptom
congenital adrenal hyperplasia
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