Rare Forms of Congenital Adrenal Hyperplasia (CAH)

For those concerned about adrenal hormone synthesis problems involving Adrenal Hyperplasia … this provides some diagrams about what gets blocked.


Rare Forms of Congenital Adrenal Hyperplasia (CAH)

caresfoundation.org/productc … s_cah.html


Selected bit:

"The three major types of adrenal steroid hormones, glucocorticoids, mineralocorticoids, and adrenal androgens, are each produced through a separate biosynthetic pathway.

All three pathways, however, share common precursor molecules. [b]If an enzymatic block occurs in any of the three biosynthetic pathways, precursor molecules are shunted into the remaining functional pathway/b.

Therefore, defects in a specific biosynthetic enzyme can simultaneously lead to deficiency in one or two types of adrenal steroids and overproduction of the remaining type(s).

Presentation and treatment of CAH depend on 1) which of the three major biosynthetic pathways is/are affected by the enzymatic defect in adrenal steroid synthesis, 2) the severity of the enzymatic defect, and 3) whether gonadal steroid synthesis is also affected.

The pattern of elevated biosynthetic precursor molecules is highly diagnostic of the type of CAH."