Congenital adrenal hyperplasia (CAH) — one of the most common autosomal recessive disorders — is potentially life-threatening in its classic (severe) form and may be asymptomatic or cause ...

The most common form of congenital adrenal hyperplasia (CAH) is a condition in which the deficiency of the 21-hydroxylase enzyme results in absent or very low cortisol production. CAH differs from ...

Classical forms of congenital adrenal hyperplasia are caused by a severe deficiency of 21-hydroxylase, an enzyme involved in steroid biosynthesis, which triggers excessive androgen production ...

If you were born with nonclassical congenital adrenal hyperplasia, your body doesn’t make enough of a certain enzyme called 21-hydroxylase, which affects the amount of hormones your body makes ...

Adrenal specimens obtained from three other patients with 21-hydroxylase deficiency who had ... biotin–peroxidase method (Dako), and the enzyme reaction was visualized with 3-amino ...

“The most frequent form of CAH, accounting for 90% of all cases, is due to 21-hydroxylase enzyme deficiency and caused by pathogenic variants of the CYP21A2 gene. Unlike other forms of primary ...

It may be hypothesised that reduced levels of steroid 21-hydroxylase could confer a survival ... Val281Leu mutation results in an enzyme with 50% of normal activity when 17-OHP is the substrate ...

which is characterized by an absence of the important 21-hydroxylase enzyme in the body. Without this enzyme, the body’s adrenal glands are unable to produce cortisol, an essential hormone ...

Dr. New and her colleagues have fully described the most common form of CAH: steroid 21-hydroxylase enzyme deficiency, responsible for 90-95 percent of all cases. Their previous work has led to ...

The adrenal glands normally produce cortisol and aldosterone with the help of an enzyme known as 21-hydroxylase. With classical CAH this enzyme is missing, which means your adrenal glands can’t ...

Dr. New and her colleagues have fully described the most common form of CAH: steroid 21-hydroxylase enzyme deficiency, responsible for 90-95 percent of all cases. Their previous work has led to ...

A person with classic CAH does not produce the enzyme known as 21-hydroxylase, which doctors usually diagnose in newborns or early infancy. Classic CAH comes in two forms: salt-wasting and simple ...