title: Prenatal Diagnosis of Congenital Adrenal Hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females.
authors.affiliation: Department of Pediatric Endocrinology, Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1198, New York, NY 10029, USA.
authors.forename: Mabel
authors.initials: M
authors.lastname: Yau
authors.affiliation: Department of Pediatric Endocrinology, Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1198, New York, NY 10029, USA.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Khattab
authors.affiliation: Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1198, New York, NY 10029, USA. Electronic address: maria.new@mssm.edu.
authors.forename: Maria I
authors.initials: MI
authors.lastname: New
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D003907:Dexamethasone / Q000627:therapeutic use; D012734:Disorders of Sex Development / Q000517:prevention & control; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D003907:Dexamethasone
keywords: 21-Hydroxylase deficiency; Amniocentesis; Congenital adrenal hyperplasia; Fetal sex determination