Congenital adrenal hyperplasia
PW Speiser, PC White - New England Journal of Medicine, 2003 - Mass Medical Soc
New England Journal of Medicine, 2003•Mass Medical Soc
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from
the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The
most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of
cases. This article discusses the molecular mechanisms, diagnosis, and management of this
disease and highlights new developments, including genotype–phenotype correlations,
gene-specific prenatal diagnosis, and prenatal therapy.
the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The
most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of
cases. This article discusses the molecular mechanisms, diagnosis, and management of this
disease and highlights new developments, including genotype–phenotype correlations,
gene-specific prenatal diagnosis, and prenatal therapy.
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. This article discusses the molecular mechanisms, diagnosis, and management of this disease and highlights new developments, including genotype–phenotype correlations, gene-specific prenatal diagnosis, and prenatal therapy.
The New England Journal Of Medicine