Article
[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family].
Revista medica de Chile - 1 Nov 2007
Merino Paulina, Bachega Tania, Céspedes Pablo, Trejo León, Billerbeck Ana Elisa, Codner Ethel
Abstract excerpt
Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied....
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Adult
- Dexamethasone
- Female
- Genotype
- Glucocorticoids
- Humans
- Infant, Newborn
- Male
- Mutation
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase