Androgen insensitivity syndrome Flashcards
What is 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.
What is the genetic basis of androgen insensitivity syndrome?
Androgen insensitivity syndrome is caused by end-organ resistance to testosterone in genotypically male children (46XY).
What is the new term for testicular feminisation syndrome?
Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome.
What are the common features of androgen insensitivity syndrome?
Common features include ‘primary amenorrhoea’, little or no axillary and pubic hair, undescended testes causing groin swellings, and breast development due to the conversion of testosterone to oestradiol.
What diagnostic methods are used to confirm androgen insensitivity syndrome?
Diagnostic methods include buccal smear or chromosomal analysis to reveal the 46XY genotype.
What are the testosterone concentration levels after puberty in androgen insensitivity syndrome?
After puberty, testosterone concentrations are in the high-normal to slightly elevated reference range for postpubertal boys.
What is the recommended management for children with androgen insensitivity syndrome?
Management includes counselling to raise the child as female, bilateral orchidectomy, and oestrogen therapy.
Why is bilateral orchidectomy recommended in androgen insensitivity syndrome?
Bilateral orchidectomy is recommended due to the increased risk of testicular cancer from undescended testes.
What therapy is recommended following bilateral orchidectomy in androgen insensitivity syndrome?
Oestrogen therapy is recommended following bilateral orchidectomy in androgen insensitivity syndrome.
