17 alpha-hydroxylase deficiency pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is transmitted in an autosomal recessive pattern. On gross pathology, thickening of the adrenal gland and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid-depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
Pathogenesis
The most important features of 17 alpha-hydroxylase deficiency include hypertension, hypokalemia and sexual infantilism.
- Hypertension and hypokalemia result from accumulation of cortisol precursors, that they have mineralocorticoid characteristics.
- Sexual infantilism results from inability of adrenal cortex to synthesize androgens and estrogens.
Through the pathway of steroid biosynthesis, CYP17A1 metabolizes pregnenolone, progesterone, 17-hydroxypregnenolone and 17-hydroxyprogesterone. In 17 alpha-hydroxylase deficiency steroid symthesis will be limited to progesterone, 11-deoxycorticosterone (DOC), and corticosterone.