NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

@article{Merke2002NIHCF,
  title={NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.},
  author={Deborah P. Merke and Stefan R. Bornstein and Nilo A. Avila and George P. Chrousos},
  journal={Annals of internal medicine},
  year={2002},
  volume={136 4},
  pages={320-34}
}
Congenital adrenal hyperplasia describes a group of inherited autosomal recessive disorders characterized by an enzymatic defect in cortisol biosynthesis, compensatory increases in corticotropin secretion, and adrenocortical hyperplasia. 21-Hydroxylase deficiency is responsible for more than 95% of cases and is one of the most common known autosomal recessive disorders. The classic or severe type presents in the newborn period or early childhood with virilization and adrenal insufficiency, with… CONTINUE READING