Adrenogenital Syndrome

Aetiology

• Genotype is XX as should be female
• Ovaries develop normally
• Foetal Adrenal Gland is hyperactive and secretes large quantities of Adrenal Androgens, due to a 21 hydroxylase mutation.

Consequence

• Wolffian Ducts persist due to the presence of Androgens, thus allowing development of male internal and external genitalia.
• Mullarian Ducts persist due to the absence of testes, hence absence of Sertoli cell MIH secretion. This allows formation of female internal genitalia.

Morphology

• Appears male with a micropenis and scrotum
• Both male and female internal genitalia