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) is a ...

Nutritional vitamin D deficiency could not explain the rickets given the normal levels of 25-hydroxyvitamin D (67.1 and 67.8 [normal 50–200] nmol/L), but both twins had very low levels of ...

17 alpha-hydroxylase deficiency is a rare congenital adrenal hyperplasia resulting from inactivating mutations in the CYP17A1 gene. This enzyme deficiency disrupts steroidogenesis by impairing ...

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

In CAH, a genetic mutation causes deficiency in an enzyme, most often 21-hydroxylase, leading to impaired cortisol synthesis and excess androgen production. Glucocorticoid replacement is the only ...