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A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
associated
with
penoscrotal
hypospadias
is
a
rare
case
of
disorders
of
sex
development
.
Here
,
we
report
clinical
,
genetic
,
biochemical
,
and
molecular
findings
in
a
2
-
year
-old
infant
with
CAH
and
penoscrotal
hypospadias
.
Chromosomal
analysis
revealed
46
,
XX
karyotype
.
Hormonal
investigations
indicated
low
levels
of
cortisol
and
elevated
levels
of
testosterone
,
17
-
hydroxyprogesterone
,
and
androstenedione
hormone
.
Molecular
genetic
testing
of
androgen
receptor
(
AR
)
gene
identified
a
novel
homozygous
missense
mutation
of
single
nucleotide
transition
G
to
A
at
position
2058
(
GenBank
accession
number
GU
784855
)
,
resulting
in
amino
acid
interchange
alanine
to
threonine
at
codon
566
in
exon
2
(
Ala
566
Thr
)
(
GenBank
Protein
_
id
ADD
2
6777
.
1
)
.
The
nature
of
the
mutation
presented
is
in
the
highly
conserved
DNA-binding
domain
of
the
AR
gene
.
The
novel
mutation
identified
in
the
rare
genetic
disorder
provides
additional
support
to
the
previously
reported
genotype-phenotype
correlations
,
and
our
finding
has
expanded
the
spectrum
of
known
mutations
of
the
AR
gene
.