Disorders of gonadal differentiation and congenital adrenal hyperplasia.
Ambiguity of the external genitalia may be based on disordered steroid biosynthesis or may arise from fundamental genetic and chromosomal abnormalities that produce failure of gonadogenesis. This article first discusses congenital adrenal hyperplasia and then considers the diverse abnormalities that cause disordered gonadal differentiation.
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000503:physiopathology*; D012734:Disorders of Sex Development / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male