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 …

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

Significant advances have taken place in our knowledge of the enzymes involved in steroid
hormone biosynthesis since the last comprehensive review in 1988. Major developments …

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 …

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 …

In the pathways of steroid hormone biosynthesis there are two major types of enzymes:
cytochromes P450 and other steroid oxidoreductases. This review presents an overview of …

Genoty** for 10 mutations in the CYP21 gene was performed in 88 families with
congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis …

▪ Abstract Pseudogenes have been defined as nonfunctional sequences of genomic DNA
originally derived from functional genes. It is therefore assumed that all pseudogene …

The need for a reliable screening test for classical congenital adrenal hyperplasia prompted
development of newborn screening programs. Worldwide incidence of classical congenital …

▪ Abstract Cytochrome P450-dependent monooxygenases are a large group of heme-
containing enzymes, most of which catalyze NADPH-and O2-dependent hydroxylation …