title: Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
abstract: 11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hypertension. DNA analysis of the gene (CYP11B1) encoding 11beta-hydroxylase has been reported previously to be effective in the prenatal diagnosis of one affected female fetus. In that case, prenatal treatment with dexamethasone resulted in normal female genitalia. We now report five new pregnancies that underwent prenatal diagnosis for 11beta-hydroxylase deficiency. In the first family, the proband is homozygous for a T318M mutation and all fetuses from four subsequent pregnancies are carriers. In a second family, the mother is homozygous for a A331V mutation and was started on dexamethasone, but identification of a homozygous normal fetus led to the discontinuation of treatment. In another family, the fetus was a male homozygous for R384Q and treatment was discontinued. Lastly, a novel G444D mutation in exon 8 was identified and proven to reduce 11beta-hydroxylase activity.
authors.affiliation: Department of Pediatrics, The New York Presbyterian Hospital-Weill Medical College of Cornell University, USA.
authors.forename: R
authors.initials: R
authors.lastname: Motaghedi
authors.forename: B P
authors.initials: BP
authors.lastname: Betensky
authors.forename: B
authors.initials: B
authors.lastname: Slowinska
authors.forename: B
authors.initials: B
authors.lastname: Cerame
authors.forename: M
authors.initials: M
authors.lastname: Cabrer
authors.forename: M I
authors.initials: MI
authors.lastname: New
authors.forename: R C
authors.initials: RC
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D000649:Amniocentesis; D002648:Child; D015193:Chorionic Villi Sampling; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*; D014770:Virilism / Q000235:genetics / Q000517:prevention & control
chemical_list: D005938:Glucocorticoids; D003907:Dexamethasone; D013252:Steroid 11-beta-Hydroxylase