Gender dysphoria

Question 1

Define sex

Answer 1

assigned at birth, based on external genitalia

Question 2

define gender

Answer 2

intrinsic sense of being male/female etc

Question 3

define gender role expression

Answer 3

personality, appearance, behaviour

Question 4

Klinefelter’s syndrome overview

Answer 4

XXY
Tall men with small testes, can’t make sperm, little facial/body hair, gynaecomastia

narrow shoulders, wide hips, impotent
truncal obesity, weakness,

testosterone replacement therapy in puberty

Question 5

congenital adrenal hyperplasia

inheritance pattern and what is it?

Answer 5

autosomal recessive
-abnormality in enzyme required for steroid synthesis

cortisol deficiency with or without aldosterone deficiency and androgen excess

Question 6

presentation of female with congenital adrenal hyperplasia

Answer 6

infant - ambiguous genetalia (large clitoris, common urogenital sinus)
hypervirilisation

Question 7

presentation of male with congenital adrenal hyperplasia

Answer 7

at birth - subtle hyperpigmentation, large penis

salt losing form - after 1-2/52 present with vomiting, weight loss, lethargy, dehydration, VNa. ^K, early virilisation (getting male attributes)

Question 8

investigating potential congenital adrenal hyperplasia

Answer 8

U&Es - renal function, VNa, ^K, low glucose - suggest adrenal insufficiency
Serum 17-hydroxyprogesterone
corticotropin stimulation test
bone age - advanced skeleton often seen

Question 9

treatment of congenital adrenal hyperplasia

Answer 9

children - hydrocortisone, adults -prednisolone/dexamethasone
fludrocortisone
salt supplementation (NaCl)