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Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5' exonuclease based assay.
[congenital adrenal hyperplasia]
Life
threatening
conditions
are
associated
with
atypical
genitalia
in
newborns
.
Analysis
of
genetic
sex
provides
a
clue
to
the
underlying
etiology
in
newborns
with
disorders
of
sex
development
(
DSD
)
and
can
guide
further
endocrine
investigations
.
Rapid
diagnosis
of
genetic
sex
would
be
immensely
useful
in
this
situation
.
Traditionally
used
methods
such
as
karyotype
and
fluorescence
in
situ
hybridisation
are
time-consuming
.
To
study
the
clinical
applicability
of
an
indigenously
developed
rapid
real-time
polymerase
chain
reaction
(
RT-PCR
)
assay
for
the
sex
determining
region
on
the
Y
chromosome
(
SRY
gene
)
and
the
DYS
14
locus
in
newborns
with
DSD
.
Clinical
examination
,
endocrinological
tests
,
RT-PCR
analysis
of
SRY
and
DYS
14
and
karyotype
was
performed
in
15
newborns
with
DSD
.
RESULTS
of
PCR
were
available
within
4
h
.
Based
on
this
report
,
in
SRY
/
DYS
14
positive
cases
,
further
tests
for
assessment
of
testicular
function
were
done
.
In
SRY
negative
cases
,
tests
for
congenital
adrenal
hyperplasia
were
done
.
On
comparing
PCR
results
with
other
tests
,
the
Y
chromosome
was
present
on
karyotype
and
testicular
tissue
was
detected
by
endocrinological
and
/
or
histological
methods
in
all
(
8
/
15
)
SRY
positive
cases
.
The
SRY
and
DYS
14
negative
cases
(
7
/
15
)
did
not
have
Y
chromosome
in
the
karyotype
.
Congenital
adrenal
hyperplasia
(
CAH
)
was
the
most
common
diagnosis
in
this
group
.
The
indigenously
developed
PCR
for
dual
Y
chromosome
markers
is
rapid
and
sensitive
.
Further
endocrine
evaluation
of
newborns
with
DSD
can
be
based
on
these
results
.
Information
of
genetic
sex
partly
allays
the
psychosocial
distress
associated
with
the
condition
.
Diseases
Validation
Diseases presenting
"the condition"
symptom
congenital adrenal hyperplasia
harlequin ichthyosis
kabuki syndrome
pyomyositis
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