| Full text | |
| Author(s): |
Soardi, Fernanda Caroline
[1]
;
Lemos-Marini, Sofia Helena V.
[2, 3]
;
Coeli, Fernanda Borchers
[1]
;
Maturana, Victor Goncalves
[1]
;
Barbosa da Silva, Marcia Duarte
[1]
;
Bernardi, Renan Darin
[1]
;
Justo, Giselle Zenker
[4]
;
de-Mello, Maricilda Palandi
[1]
Total Authors: 8
|
| Affiliation: | [1] Univ Estadual Campinas, CBMEG, BR-13083875 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Fac Ciencias Med, Dept Pediat, BR-13083875 Campinas, SP - Brazil
[3] Univ Estadual Campinas, Fac Ciencias Med, Ctr Invest Pediat, BR-13083875 Campinas, SP - Brazil
[4] Univ Fed Sao Paulo, Dept Bioquim, Disciplina Biol Mol, Sao Paulo - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 52, n. 8, p. 1388-1392, NOV 2008. |
| Web of Science Citations: | 3 |
| Abstract | |
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 elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3' end intron 4 and 5' end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies. (AU) | |
| FAPESP's process: | 05/00981-5 - Congenital adrenal hyperplasia: new mutations and their effects on the enzymatic activity |
| Grantee: | Maricilda Palandi de Mello |
| Support Opportunities: | Regular Research Grants |