PRENATAL-DIAGNOSIS OF CONGENITAL LIPOID ADRENAL-HYPERPLASIA

Background: There are no published reports of prenatal diagnosis of co ngenital lipoid adrenal hyperplasia, which is the rarest form of conge nital adrenal hyperplasia. Case: Congenital lipoid adrenal hyperplasia was diagnosed prenatally based on the existence of one affected sibli ng in the family, the presence of an amniotic fluid cell karyotype of 46,XY, the appearance of normal female genitalia on ultrasonography, r elatively low amniotic fluid concentration of 17 alpha-hydroxyprogeste rone, low maternal plasma and urinary concentrations of estriol, and a positive response to the dehydroepiandrosterone sulfate loading test. Conclusion: Congenital lipoid adrenal hyperplasia can be diagnosed pr enatally. Treatment in early infancy can lead to normal mental and phy sical development.