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 ...

Hence, 21-deoxycortisol is a more specific biomarker of 21-hydroxylase deficiency than is 17-hydroxyprogesterone and has been incorporated into some newborn screening protocols. 24 Furthermore ...

What Causes Nonclassical Congenital Adrenal Hyperplasia? The most common cause of NCAH is 21-hydroxylase deficiency. This enzyme deficiency happens because of a genetic change you inherit.

Fukami, M., Hasegawa, T., Horikawa, R. et al. Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency ...

CAH differs from adrenal insufficiency in that because of the 21-hydroxylase enzyme deficiency, cortisol precursors are shifted to a pathway of increased adrenal androgen production.

Keywords: 21 hydroxylase deficiency, follow-up, treatment, new therapies, comorbidities Citation: Çaglar Çetinkaya S (2023) Editorial: Recent advances in diagnosis and treatment of congenital adrenal ...

The most prevalent form of CAH arises from steroid 21-hydroxylase enzyme deficiency, accounting for ∼90–95% of all cases (1, 2). In contrast, CAH caused by steroid 11β-hydroxylase deficiency is ...

POR deficiency causes partial and combined impairment of the key enzymes involved in steroidogenesis: P450c17 (17α-hydroxylase/17,20 lyase), P450c21 (21-hydroxylase) and P450aro (aromatase).