Mutation analysis of androgen receptor gene: Multiple uses for a single test

• Further proof for pathogenicity of the c.2522G > A variant
• Phenotype–genotype correlation between c.2522G > A and PAIS
• Confirm the diagnosis of PAIS by molecular genetic tests
• Prevent undesired outcomes by early diagnosis via molecular genetic tests
• Grade III to V of PAIS, the gender change toward female would be more reasonable.

Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes. In family 1, two brothers and their mother were hemizygous and heterozygous respectively for c.2522G > A variant, while one of their healthy brother was a completely normal hemizygote. Family 2 assessment demonstrated the c.639G > A (rs6152) mutation in two siblings who were reared as girls. The SRY gene was intact in all of the study's participants.Our findings in family 1 could be a further proof for the pathogenicity of the c.2522G > A variant. Given the importance of AR mutations in development of problems such as sex assignment in AIS patients, definitive diagnosis and phenotype–genotype correlation could be achieved by molecular genetic tests that in turn could have promising impacts in clinical management and also in prenatal diagnosis of prospect offspring.In this regard, phenotype–genotype correlation could be helpful and achieved by molecular genetic tests. This could influence the clinical management of the patients as well as prenatal diagnosis for the prospective offspring.