Classification of genetically determined disorders of sexual development

1. Defects of sex determination due to mutation
or structural aberration of the SRY region
on the Y chromosome (e.g., XY gonadal
dysgenesis, XX males, and others)
2. Defects of androgen biosynthesis (e.g.,
adrenogenital syndrome due to 21-hydroxylase
deficiency, see p. 392)
3. Defects of androgen receptors (testicular
feminization)
4. Defects of the müllerian inhibition substance
(so-called hernia uteri syndrome)
5. XO/XY gonadal dysgenesis