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Divergent Gender Identity in Three Siblings with 46XX Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by a Novel CYP11B1 Mutation.
[congenital adrenal hyperplasia]
To
describe
conflicting
gender
identities
in
three
karyotypically
female
siblings
with
congenital
adrenal
hyperplasia
(
CAH
)
caused
by
a
novel
mutation
in
the
CYP
11
B
1
gene
,
who
were
assigned
as
males
at
birth
and
followed
up
to
adulthood
.
We
present
3
siblings
(
16
,
14
and
10
years
old
)
who
were
born
with
severe
genital
virilization
and
raised
as
males
.
Clinical
examination
showed
Prader
IV
to
V
external
genitalia
with
a
stretched
penile
length
of
7
to
11
cm
.
Adrenocorticotrophic
hormone
(
ACTH
)
stimulation
test
showed
a
stimulated
11
deoxycortisol
(
11
DOC
)
level
of
12
,
300
-
18
,
700
μg
/
L
(
normal
0
-
5
μg
/
L
)
.
Their
karyotypes
were
46
XX
,
and
they
had
normal-sized
uterus
and
ovaries
on
pelvic
ultrasound
.
DNA
was
isolated
from
peripheral
leukocytes
,
and
polymerase
chain
reaction
(
PCR
)
and
direct
sequencing
revealed
a
novel
CYP
11
B
1
mutation
.
This
mutation
leads
to
a
c
.
53
_
54
T
insertion
(
c
.
53
_
54
insT
)
with
frameshift
and
truncation
at
c
.
115
(
codon
39
)
of
CYP
11
B
1
.
P
sychological
evaluation
of
the
oldest
sibling
suggested
a
female
gender
identity
,
and
she
declared
herself
as
female
,
and
female
sex
was
re
-assigned
after
1
year
of
psychosocial
adjustment
.
Psychological
assessment
for
the
2
younger
siblings
and
a
fourth
46
XY
sibling
with
the
same
condition
revealed
male
gender
identities
,
and
they
continued
their
lives
as
males
without
significant
difficulties
.
Divergent
gender
identity
was
observed
in
three
severely
masculinized
46
XX
siblings
with
CAH
who
carried
the
same
CYP
11
B
1
mutation
and
had
comparable
postnatal
and
probably
prenatal
androgen
exposure
and
environmental
circumstances
.
These
cases
suggest
that
the
basis
of
gender
identity
is
more
complex
than
chromosomal
,
biochemical
,
and
genetic
constitution
.
Diseases
Validation
Diseases presenting
"who were assigned as males at birth and followed up to adulthood"
symptom
congenital adrenal hyperplasia
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