|Test Description||The Code||Price||Turnaround time|
Androgen Insensitivity Syndrome
Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination
We perform genetic testing from:
|AR-NGS||2,100.00 zł||up to 8 weeks|
Androgen insensitivity syndrome is a recessive disease linked with the chromosome X and conditioned by the presence of a defect in the AR gene (Xq11-12). The AR gene encodes the androgen receptor belonging to the family of the receptors of steroidal hormones, which regulate the expression of specific genes in response to the hormones’ activity (in the case of the AR gene, testosterone).
The mutations occurring in the AR gene cause the loss of the protein function, which in turn leads to cells' resistance to the effects of androgens.
Men with a mutation in the AR gene can show different symptoms of the disease. In the case of a full androgen insensitivity syndrome in individuals with a 46,XY karyotype secondary female sexual characteristics develop; a mutation is detected in the AR gene in 95% of such cases. Moderate and partial androgen insensitivity syndrome is characterised by a wide range of symptoms including, among other things, infertility or disorders in the development of the male sexual traits.
The infertile men in whose AR gene a mutation has been detected, have been diagnosed with azoospermia or severe oligozoospermia, also in combination with other disorders (cryptorchidism, hypospadia(s), gynaecomastia, poor development of male sexual traits) resulting from insensitivity to the effects of androgens. A different hormonal profile has also been observed in such cases: a high concentration of LH and a normal-high concentration of testosterone in blood serum (high ASI index). It is estimated that a mutation can be detected in the AR gene of 2-3% of the men with diagnosed azoospermia or severe oligozoospermia. Exon 1 of the AR gene contains a polymorphism consisting in repeats of three nucleotides (CAG), which codes for a polyglutamine sequence. The expansion of the CAG repeats (>35-40 repetitions) is related to the development of Kennedy syndrome (spinal bulbar muscular atrophy, SBMA). Moreover, it is suggested that the CAG polymorphism may increase the risk of developing endocrynological diseases, including breast and prostate cancers.
More info at http://androgendb.mcgill.ca/