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 ...

Koppens PF, Hoogenboezem T, Degenhart HJ (2000) CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. Eur J Hum Genet 8:827–836 ...

The most common type of CAH is 21-hydroxylase deficiency 1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency. CAH is a disease of multiple hormonal imbalances.

Panel B shows changes in serum levels of 17-hydroxyprogesterone ... Surgical adrenalectomy has been used to restore fertility in women with 21-hydroxylase deficiency. 5 Mitotane can be used ...

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 ...

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 ...

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

Nearly half (47%) reported thyroid disease, 12% reported type 1 diabetes, 11% vitiligo, 10% vitamin B12 deficiency and ... early onset (OR=32). Anti-21-hydroxylase antibodies were reported in ...