AIS_flashcards
What is Androgen Insensitivity Syndrome (AIS)?
Androgen Insensitivity Syndrome (AIS) is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.
What causes AIS?
End-organ resistance to testosterone.
What is the genotype of individuals with AIS?
46XY.
What is the new term for testicular feminisation syndrome?
Complete androgen insensitivity syndrome.
What are the primary features of AIS?
‘Primary amenorrhoea’, little or no axillary and pubic hair, undescended testes causing groin swellings, and breast development.
What is primary amenorrhoea?
The absence of menstruation by age 15 in girls who have not shown other signs of puberty.
What physical characteristic is often absent or reduced in AIS?
Little or no axillary and pubic hair.
What causes groin swellings in AIS?
Undescended testes.
Why might breast development occur in AIS?
Conversion of testosterone to oestradiol.
How is AIS diagnosed?
Buccal smear or chromosomal analysis to reveal 46XY genotype.
What are the typical testosterone levels in AIS after puberty?
High-normal to slightly elevated reference range for postpubertal boys.
What is the recommended gender for raising a child with AIS?
Raise the child as female.
What surgical procedure is recommended for AIS and why?
Bilateral orchidectomy, due to an increased risk of testicular cancer from undescended testes.
What hormone therapy is recommended for AIS management?
Oestrogen therapy.
