Article
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 2002
Ezquieta B, Cueva E, Varela J, Oliver A, Fernández J, Jariego C
Abstract excerpt
AIM: To investigate the association between levels of 17-hydroxyprogesterone (17-OHP) and the risk of being compound heterozygous for severe mutations in children with non-classical 21-hydroxylase deficiency (NC21OHD). METHODS: In 86 Spanish NC21OHD children (75 families) an analysis of the 21-hydroxylase (21-OH) gene was performed by CYP21B-specific polymerase chain reaction amplification, allele-specific...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.