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we start off simply enough by a common pathway with cholesterol, yes that same one that clogs arteries but let's get a bit abstract
Do forgive my very crude dramatization
between each one of these is a series of enzymes and other steps not particularly important for our purposes, should there be a mal-function in any, we'd end up missing one or several of those either,androgens, cortisol or the mineralcortioics some of those conditions aren't compatible with life ... but our topic deals with virilization so we'll forgo the other two who have their own sets of ramifications for another day and discuss congenital adrenal hyperplasia specifically known as 21 hydrxylase deficiency. in short the two other pathways get shut down or made in very low amounts that the pathways shifts to the sex hormones and we have an over production of those (androgens)...aldosterone meanwhile, sends a signal to ACTH which is a hormone produced by the anterior pituitary gland that stimulates the adrenal cortex,the adrenals become hyperplastic hence the name congenital adrenal hyperplasia, and since there is a deficient enzyme the process becomes viscous cycle... this syndrome can actually also occur in the adult, and since there is a 21 hydroxylase deficiency we get a rise in 17 hydoxy progesterone, it is another enzyme in the cholesterol/progesterone path..and we can actually use its elevation for diagnostic purposes but I digress...
Now when this enzyme is missing in females upon birth they will have what is known as ambiguous genitalia.. it is good because now you have found out early and can help her, however the actual problem is in the male because they are missing aldosterone (mineralocorticoids) and that is very bad as they end up with what is known as 'salt wasting' nephropathy. Their kidneys aren't able to retain sodium, thus these males become hypotensive and dehydrated..
Now there is a non-classic form of this which enables them to produce some amount of cortisol and mineralocorticoid, until under extreme stress... this occurs in 1/100 birth, which makes it an extremely common autosomal recessive disorder and one that all new borns are and should be tested for....hopefully in you dear reader, no enzyme is missing... but if it is, then hopefully you are being given what you are missing cortisone and some other glucocorticoids which crosses over to other topics that we can talk about if there is enough interested generated in adrenal insufficiency....
That was your bed time story today...

cholesterol
.
.
.
.
progesterone (yes the female hormone)
. . '
. ' '
' ' '
' cortisol '
Aldosterone sex hormones
.
.
.
.
progesterone (yes the female hormone)
. . '
. ' '
' ' '
' cortisol '
Aldosterone sex hormones
Do forgive my very crude dramatization
between each one of these is a series of enzymes and other steps not particularly important for our purposes, should there be a mal-function in any, we'd end up missing one or several of those either,androgens, cortisol or the mineralcortioics some of those conditions aren't compatible with life ... but our topic deals with virilization so we'll forgo the other two who have their own sets of ramifications for another day and discuss congenital adrenal hyperplasia specifically known as 21 hydrxylase deficiency. in short the two other pathways get shut down or made in very low amounts that the pathways shifts to the sex hormones and we have an over production of those (androgens)...aldosterone meanwhile, sends a signal to ACTH which is a hormone produced by the anterior pituitary gland that stimulates the adrenal cortex,the adrenals become hyperplastic hence the name congenital adrenal hyperplasia, and since there is a deficient enzyme the process becomes viscous cycle... this syndrome can actually also occur in the adult, and since there is a 21 hydroxylase deficiency we get a rise in 17 hydoxy progesterone, it is another enzyme in the cholesterol/progesterone path..and we can actually use its elevation for diagnostic purposes but I digress...
Now when this enzyme is missing in females upon birth they will have what is known as ambiguous genitalia.. it is good because now you have found out early and can help her, however the actual problem is in the male because they are missing aldosterone (mineralocorticoids) and that is very bad as they end up with what is known as 'salt wasting' nephropathy. Their kidneys aren't able to retain sodium, thus these males become hypotensive and dehydrated..
Now there is a non-classic form of this which enables them to produce some amount of cortisol and mineralocorticoid, until under extreme stress... this occurs in 1/100 birth, which makes it an extremely common autosomal recessive disorder and one that all new borns are and should be tested for....hopefully in you dear reader, no enzyme is missing... but if it is, then hopefully you are being given what you are missing cortisone and some other glucocorticoids which crosses over to other topics that we can talk about if there is enough interested generated in adrenal insufficiency....
That was your bed time story today...
