Major Disorders of Sex Differentiation in Humans

Intersexual conditions with abnormal chromosome complement:

1. Without a Y chromosome (female)

a) ovarian dysgenesis (Turner's syndrome) XO
b) superfemales XXX

2. With a Y chromosome (male)
a) seminiferous tubule dysgenesis (Klinefelter's syndrome) XXY

3. Mosaics (true hermaphroditism)

Intersexual conditions with normal chromosome complement:

Pseudohermaphroditism

a) female: Congenital virilizing adrenal hyperplasia of the fetus

Maternal androgen excess: virilizing adrenal or ovarian tumor

endogenous: virilizing adrenal or ovarian tumor

exogenous: treatment with androgens or progestins

b) male: Androgen resistance, Defective testicular development, Congenital steroid enzyme deficiency