Article
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008
Soardi Fernanda Caroline, Lemos-Marini Sofia Helena V, Coeli Fernanda Borchers, Maturana Víctor Gonçalves, Silva Márcia Duarte Barbosa da, Bernardi Renan Darin, Justo Giselle Zenker, de-Mello Maricilda Palandi
Abstract excerpt
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- False Positive Reactions
- Female
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Neonatal Screening