Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.

@article{Mauseth1980DetectionOH,
  title={Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.},
  author={R. S. Mauseth and John A Hansen and Elizabeth K Smith and Eloise R. Giblett and Vincent C. Kelley},
  journal={The Journal of pediatrics},
  year={1980},
  volume={97 5},
  pages={
          749-53
        }
}
We have studied nine families in which at least one member has congenital adrenal hyperplasia, to compare the predictive value of HLA typing and the 17-hydroxy progesterone response to ACTH as methods for detection of heterozygotes. In each of six families, two children were affected and were HLA genotypically identical. None of the unaffected siblings were HLA identical with their affected siblings. When the 17-OHP response to ACTH and the HLA haplotypes of parents and unaffected siblings were… CONTINUE READING