mjl1717
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What are the main labs , signs and symptoms of 11 hydroxylase deficiency?
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| mdwannabe
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No 11-HDXY, no cortisol, incrs ACTH, a lots of Aldo and even more testo,
hyperpigment, early HTN, virulization, salt wasting, labs just follow from that.
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| mjl1717
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Buddy this how I see it:
11 hydroxylase is between Deoxycorticosterone and corticosterone also between deoxycortisol and cortisol.
Lab wise: deoxycorticosterone functions as a weak mineral corticoid, *No or very little deoxycorticosterone and aldosterone, cortisol is diminished.
So ACTH is much increased via negative feedback. adrenal hyperplasia,
excess steroids above the block, excess deoxycorticosterone produces Na retension, increas BP.
Increase BP means less renin and AngioII
Increase androgens means virilizing of female and affects prepuberty males.
*The main point aldosterone and its precursor is decreased/*Deoxycorticosterone becomes more profound.
If Im not mistaken there is shut down of the zona glomerulosa.
Comments?
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| mdwannabe
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as far as I know, aldo not affected much, the rest is correct to my knowledge.
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| mjl1717
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According to Lippincott cortisol ,aldosterone and corticosterone are all decreased!
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| mdwannabe
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dunno...what is true. Biochemically, it certainly does makes sence, but in reality, you get hypertension with normal Aldo, reason's unknown.
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| mjl1717
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Thx-As you know thats one of the things about this arena:
Whats read in the book, and whats seen in clinical practice is often 2 separate entities!
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| mdwannabe
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I am on board with you on that! :-)
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| mdwannabe
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If I remember correctly, Kaplan has a great section in Endocrine physio portion, on these deficiencies, very easy to understand and recall, the rest you can just meke inferrences.
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| mdwannabe
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If I remember correctly, Kaplan has a great section in Endocrine physio portion, on these deficiencies, very easy to understand and recall, the rest you can just make inferrences.
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| bakpity
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Ok !
In addition to your replies when you have an excess of 11-dezoxycorticosteron (althoug it is a weak mineralcorticoid) its effect is significant. Thus it causes salt retention and hypertension. Moreover virilisation also takes place.
Just to remember: 21-hydroxylase def--no cortisol and aldosteron and no weak mineralcorticoid thus loses salt, hypotension and virilisation too.
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