Article
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.
Prenatal diagnosis - 1 Jan 2008
Jean Amy, Mansukhani Mahesh, Oberfield Sharon E, Fennoy Ilene, Nakamoto Jon, Atwan Maha, Lerer Israela, Neriah Ziva Ben, Zangen David H, Chung Wendy K
Abstract excerpt
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...
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