Gender and sexuality

Question 1

What is the gene responsible for genitalia?

Answer 1

SRY gene on Y chromosome

Question 2

What are causes of disorder of sexual differentation?

Answer 2

Excessive androgens- virilisation.
Inadequate androgen action (synthesis/response/conversion)- undervirilisation.
Gonadatrophin insufficiency- Prader-Willi and hypopituitarism.
Ovotesticular disorder- XX and XY cells present; rare

Question 3

What do Leydig cells produce?

Answer 3

Testosterone

Question 4

What do Sertoli cells produce?

Answer 4

Anti-Müllerian hormone

Question 5

What is the incidence of congenital adrenal hyperplasia?

Answer 5

1 in 5000 births

Question 6

What is the most common cause of congenital adrenal hyperplasia?

Answer 6

90% have a deficiency of 21-hydroxylase

Question 7

What is the effect on the foetus of congenital adrenal hyperplasia?

Answer 7

Increased ACTH, driving the overproduction of adrenal androgens; virilisation and a salt-losing crisis in 80% of males between 1 - 3 weeks

Question 8

What are the findings in congenital adrenal hyperplasia?

Answer 8

Raised 17 a-hydroxyprogesterone, low sodium, high potassium, metabolic acidosis, hypoglycaemia

Question 9

What is the treatment for a salt-losing crisis in a male with congenital adrenal hyperplasia?

Answer 9

Saline, dextrose and hydrocortisone

Question 10

What is the life long treatment for congenital adrenal hyperplasia?

Answer 10

Glucocorticoids with mineralocorticoids if there is salt loss