Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Tania Mayvel Espinosa ReyesTeresa Collazo MesaPaulina Arasely Lantigua CruzAdriana Agramonte MachadoEmma Domínguez AlonsoHenrik FalhammarPublished in: BMC endocrine disorders (2020)
The causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.