Miscellaneous

Question 1

What is the typical presentation of androgen insensitivity syndrome?

Answer 1

46XY Phenotype
X-linked condition leading to production of Mullerian Inihibiting Factor by the testes which leads to feminisation and block development of uterus and fallopian tubes
Presents w/ primary amenorrhoea without axillary or pubic hair (they DO have breasts due to peripheral conversion of testosterone)
Groin swellings due to undescended testes

Testosterone levels are high-normal in the post-pubertal stage

Mx: bilateral orchiectomy and raise the child as female, give supplemental oestrogen