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 …

Cytochrome P450 (P450) enzymes are important in the metabolism of drugs, steroids, fat-
soluble vitamins, carcinogens, pesticides, and many other types of chemicals. Their catalytic …

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 …

BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase
deficiency is a common autosomal recessive disorder characterized by androgen excess …

Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that
arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21 …

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 …

Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene
encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of …

Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders
caused by complete or partial defects in one of the several steroidogenic enzymes involved …

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of
adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for over 95% of …