1. Ambiguous genitalia
Sex Chromosome DSD
46 XY DSD
46 XX DSD
Disorder of gonadal
development
Turner’s
(45 X)
Mixed gonadal dysgenesis
(45X, 46 XY)
Androgen
Excess
Klinefelter’s
(47 XXY)
Chimerism (46XX,46XY)
Testicular
DSD
Gonadal
dysgenesis
Ovo-
testes
Disorder of
gonadal
development
Disorder of
androgen
Synthesis or
action
Fetal
Origin
Placental or Maternal
Origin
Congenital
Adrenal
Hyperplasia
(CYP21A)
Glucocorticoid
receptor
mutation
Ovo-testes
Gonadal
dysgenesis
LH receptor
mutation
Congenital
Adrenal
Hyperplasia
(HSD3B2)
Androgen
Insensitivity
Syndrome
Drugs or environmental modulators
Aromatase
Deficiency
Maternal virilizing
tumors
Androgenic
Drugs
Adapted from Table 22-3, Chapter 22. Kronenberg: Williams Textbook of Endocrinology, 11th ed.