Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Abstract Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s
following the discovery of the structure and function of adrenocortical hormones. Although …

Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …

Over the last two decades, we have extensively studied the genetics of congenital adrenal
hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA …

Context: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-
hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic …

In the past decade there has been considerable progress in the characterization of
individual human P450 enzymes. These advances were initiated by early work on the …

Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis …

Steroid 21-hydroxylase (P450c21) is absent or defective in more than 90% of patients with
congenital adrenal hyperplasia. This disorder of cortisol biosynthesis occurs in a wide …

The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …