Gynaecology

Question 1

What is Adrenal Insufficiency Syndrome?

Answer 1

X-Linked recessive

genotypically male 46XY
phenotypically female

end organ resistance to testosterone

Question 2

Features of Adrenal Insufficiency Syndrome

Answer 2

primary amenorrhoea

little to no axillary or pubic hair

breast development due to testosterone conversion to oestradiol

undescended testes causing groin swelling

Question 3

Diagnosing Adrenal Insufficiency Syndrome

Answer 3

Buccal Smear or Chromosomal Analysis to see 46XY

after puberty, testosterone levels will be high normal or slightly elevated.

Question 4

How would you manage Adrenal Insufficiency Syndrome?

Answer 4

Counselling - raise kid female

bilateral orchidectomy - increase testicular cancer risk if you dont because undescended

oestrogen therapy