Article
Molecular analysis of the CYP21A2 gene in dried blood spot samples.
Medicina - 1 Jan 2020
Marino Silvia, Perez Garrido Natalia, Ramírez Pablo, Pujana Matías, Dratler Gustavo, Belgorosky Alicia, Marino Roxana
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme. Neonatal screening programs...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Alleles
- Dried Blood Spot Testing
- Female
- Gestational Age
- Humans
- Infant, Newborn
- Male
- Mutation
- Neonatal Screening