Androgen insensitivity syndrome

Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome

Features

• 'primary amennorhoea'
• undescended testes causing groin swellings
• breast development may occur as a result of conversion of testosterone to oestradiol

Diagnosis

• buccal smear or chromosomal analysis to reveal 46XY genotype

Management

• counselling - raise child as female
• bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
• oestrogen therapy