Hormonal Phenotype and HLA-Genotype in Families of Patients with Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

@article{Lorenzen1979HormonalPA,
  title={Hormonal Phenotype and HLA-Genotype in Families of Patients with Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)},
  author={Franziska Lorenzen and Songja Pang and Maria I. New and B J Dupont and Marilyn S. Pollack and Diane M Chow and Lenore S. Levine},
  journal={Pediatric Research},
  year={1979},
  volume={13},
  pages={1356-1360}
}
Summary: The response of 17-hydroxyprogesterone (17-OHP) and cortisol (F) to a 6-hr ACTH stimulation in families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied. These studies demonstrated that siblings who should be heterozygous carriers of the 21-hydroxylase deficiency gene based on HLA genotyping are… CONTINUE READING