Hasroon Mukhtar

SRY is a sex determinant gene, encodes sex-determining Y protein. The protein is primarily

responsible for the male-typical sex developments of genitalia. Androgen receptor (AR) is

required for normal gonads development. Any sort of mutations in this receptor may cause the

variations in phenotypes that’s cannot be distinguished as male or female. Normally, the fetus

is differentiated as a male in the 6th or 7th week controlled by SRY gene. After 13th week,

testosterone is more potent androgen within the genitalia due to the development of male

genitalia in 9th to 13th week. Due to mutations in the gene, androgen sensitivity syndrome (AIS)

occurs which is characterized into three types i.e. complete, partial and incomplete androgen

sensitivity syndrome. Such anomalies in SRY gene or its translocation on X chromosome gives

rise to the ambiguous gonad phenotype. Persons who don’t have SRY or SOX9 are

phenotypically female even carrying Y chromosome. The blood samples collected from

subjects to perform RNA extraction followed by cDNA synthesis and real-time PCR performed

for the analysis of gene expression. We analyzed the gene expression of AR together with SRY

to evaluate their role in ambiguous genitalia. We have found that the expression levels of SRY

and AR gene is higher in controls groups than transgender group. Decreased expression of SRY

and AR indicated a compromised development of male genital leading to transgender

phenotype. The gender scale described that less than 5 were more oriented towards maleness

while greater than 5 were more oriented towards femaleness. The expression levels of SRY

and AR can be used to develop diagnostics for the detection of transgender phenotypes.