Prenatal diagnosis of congenital lipoid adrenal hyperplasia.

There are no published reports of prenatal diagnosis of congenital lipoid adrenal hyperplasia, which is the rarest form of congenital adrenal hyperplasia. Congenital lipoid adrenal hyperplasia was diagnosed prenatally based on the existence of one affected sibling in the family, the presence of an amniotic fluid cell karyotype of 46,XY, the appearance of normal female genitalia on ultrasonography, relatively low amniotic fluid concentration of 17 alpha-hydroxyprogesterone, low maternal plasma and urinary concentrations of estriol, and a positive response to the dehydroepiandrosterone sulfate loading test. Congenital lipoid adrenal hyperplasia can be diagnosed prenatally. Treatment in early infancy can lead to normal mental and physical development.