Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing

Objective Congenital lipoid adrenal hyperplasia is an autosomal recessive condition due to mutations in Steroidogenic Acute Regulatory Protein (StAR) associated with the inability to synthesize all adrenal and gonadal steroids, resulting in adrenal insufficiency and failure to develop male genitalia in affected 46,XY individuals. We used two independent methods of prenatal diagnosis for CLAH. Method CLAH was diagnosed prenatally by measuring amniotic fluid estriol, adrenal, and gonadal hormone levels, and by mutation analysis for the c.201–202 delCT mutation in StAR. Results Prenatal testing diagnosed one affected and three unaffected fetuses in two families at risk for CLAH. Conclusion Prenatal testing for CLAH is effective, and targeted molecular genetic analysis should be considered in Palestinian families with a fetus with discordant 46,XY karyotype and female genitalia on ultrasound, and low maternal serum estriol. Copyright © 2007 John Wiley & Sons, Ltd.