The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. Since the last Medical Progress article on this topic was published in the Journal in 1987 ...

Glucocorticoids are essential for the normal development and functioning of the adrenal medulla. Whether adrenomedullary structure and function are normal in patients with congenital adrenal ...

Up to 95% of CAH cases involve a 21-hydroxylase deficiency, a key enzyme for normal hormone levels. Most CAH diseases can be classed into two main types: classic CAH and nonclassic (also called ...

Yes, I do think we need non-glucocorticoid forms of therapy to treat 21-hydroxylase deficiency congenital adrenal hyperplasia. The most common form of congenital adrenal hyperplasia (CAH ...

Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1: ...

Phenylalanine hydroxylase (PAH) deficiency, traditionally called phenylketonuria (PKU) due to characteristic phenylketones accumulating in the urine of affected individuals, has a significant ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...

The coarse, short, sparse, and twisted hair is distinctive and is due to tyrosine hydroxylase deficiency, another cuproenzyme. Pili torti, one of the hair abnormalities, can help the clinician ...

Canadian physicians should be aware of the higher risk of 1-α-hydroxylase deficiency in the French-Canadian populations of Quebec and the Maritime provinces. Twin 12-month-old girls underwent ...

The most common cause of NCAH is 21-hydroxylase deficiency. This enzyme deficiency happens because of a genetic change you inherit. Without enough 21-hydroxylase, the compounds that make cortisol ...

A 21-hydroxylase deficiency is the most common form of CAH and affects around 1 in 10,000 to 1 in 15,000 people annually in the United States and Europe. In this article, we examine the types of ...