Diagnosing disorders of sex hormones + pseudohermaphroditism

Question 1

Defective androgen receptor

Answer 1

High testosterone
High LH (due to inactive receptor in the pituitary)

Question 2

Testosterone secreting tumor, exogenous steroids

Answer 2

High testosterone

Low LH

Question 3

1’ hypogonadism

Answer 3

Low testosterone

High LH

Question 4

Hypogonadotropic hypogonadism

Answer 4

Low testosterone

Low LH

Question 5

Pseudohermaphroditism

Answer 5

Disagreement between the phenotypic (extra genitalia) and gonads (tests/ovaries) sex.

Question 6

Pseudohermaphroditism: 
female pseudohermaphrodite (XX)

Answer 6

Ovaries present
External genitalia virilized or ambiguous
Due to excessive androgen exposure during early gestation
(congenital adrenal hyperplasia or exogenous adrogen during pregnancy)

Question 7

Pseudohermaphroditism:
Male pseudohermaphrodite (XY)

Answer 7

Testes present
External genitalia female or ambiguous
Most common form: androgen insensitivity syndrome (testicular feminization)

Question 8

True hermaphroditism:

46XX or 47XXY

Answer 8

Both ovary and testicular tissue present (ovotestis);
Ambiguous genitalia
Very rare