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 …

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

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 …

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 …

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 …

Background: Genetic analysis is commonly performed in patients with congenital adrenal
hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the …

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 …

The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent
disease with serious consequences, going from a real mortality risk to infertility and to milder …

Background Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations
derived from conversion events involving the pseudogene, and the remaining carry new …