Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.

@article{Ezquieta2002Nonclassical2D,
  title={Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.},
  author={Bego{\~n}a Ezquieta and Elena Cueva and Jos{\'e} Varela and Antonio Oliver and Josefina A Fern{\'a}ndez and C M Jariego},
  journal={Acta paediatrica},
  year={2002},
  volume={91 8},
  pages={892-8}
}
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 oligonucleotide hybridization and Southern blotting. Familial analysis established how… CONTINUE READING