- 21β-hydroxylate deficiency is the most common biochemical abnormality of the steroidogenic pathway.
- Belongs to a group of disorders characterized by adrenogenital syndrome.
- Is characterized by the following:
a) decreased cortisol and aldosterone levels (b/c the enzyme block prevents the production of 11-deoxycorticosterone and 11-deoxycortisol, the precursors for cortisol and aldosterone).
b) increased 17-hydroxyprogesterone and progesterone levels (b/c of accumulation of intermediates above the enzyme block).
c) increased ACTH (b/c of decreased feedback inhibition by cortisol)
d) hyperplasia of zona fasciculata and zona reticularis (b/c of high levels of ACTH)
e) increased adrenal androgens (b/c 17-hydroxyprogesterone is their major precursor)
f) virilization in women
g) early acceleration of linear growth and early appearance of pubic and axillary hair
h) suppression of gonadal function in both men and women
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