Congenital Adrenal Hyperplasia (CAH) - 2 of 2

This is a lecture about the genetic disorder Congenital Adrenal Hyperplasia (CAH) designed for trainees and medical professionals. Lecture by Philip M. Boone, MD, PhD.
Comments, corrections, suggestions, and questions welcomed.
Sources:
www.ncbi.nlm.nih.gov/books/NBK...
www.ncbi.nlm.nih.gov/books/NBK...
Clinical Genomics: Practical Applications in Adult Patient Care. Ed. Murray M et al. McGraw Hill. 2014.

[@doc.mai1]

thank you so so much! this was amazing both Pt 1 and 2. you've saved me so much time and confusion

[@yusefsma4916]

Thank you very much!
Would like to watch more of your Excellent videos. On various medical subjects clear explanation!

[@hellomeme94]

I FINALY UNDERSTOOD IT THAAAANKS!!

[@saadmujtahedi9387]

Thanks for explaining it so well, very informative 😄👍

[@ayshaisa2165]

Excellent discourse indeed

[@halimcremer]

Love your explanations!!! Thank you so much!!! :)

[@xDomglmao]

5:10 - afaik 11bOHase-def. exhibits a biphasic pattern:
a) in infancy salt wasting occurs --> hTN
b) in adulthood DOC "acc." occurs --> HTN
Thank you for the nice videos!

[@venkybly]

Tq for making this so simple

[@vinu2304]

Very good video sir, helped lot to learn.

[@louisborgatta9848]

10/10. I've been looking for an in depth discussion on CAH like this for days. keep it up, maybe upload more on other congenital biochemical disorders. e.g. PKU, MCAD, LCHAD, MSUD, etc. Thanks!

[@mohammedparveez5603]

Great presentation

[@user-ef8xj8tn7l]

Finally , I understood , helped me a looooooooooooooooot , thank you so so much

[@hamidullahmansoor7129]

thank you

[@haninalanazy4087]

Thank you so much

[@veenadilip2148]

Thank u sir, that was indeed very helpful

[@amulyar9576]

Thanks a lot!

[@radwaawad9013]

thank you sir , that was very helpful :-)

[@fahad00k]

thankx :) .. helped a lot..

[@benjaminbartell2472]

you are so smart.

[@ahmednuman9285]

Thank u sooooo much

[@nokialover31]

Thanks

[@rabinakaram7433]

Thanks.

[@nournour7393]

thanks

[@ikanmasin111]

Hi doc..thanks for your superb explaination. However, can u explain what is the condition will be if the protein found to be high?

[@janettremblay8874]

Please know that non salt-wasters can also go into adrenal crisis. For me, it has been when I have had the intestinal flu or food poisoning and can't keep my hydrocortisone down. My blood pressure drops dramatically, and then it's a trip to Urgent Care or the ER for an IV bolus of 100 mg Solu-Cortef and fluids.

[@sashas3362]

At around 11:32 you say (in 46 XX's) "testosterone can get converted to some extent into estradiol therefore you get a failure in female hormones to develop female genitals as well". Could you explain what you meant by that? Why would there be a failure to develop female genitals if there is a deficiency in androgens?
UPDATE: Nevermind. I see what you meant now. You were saying 46 XX's fail to become sexually mature at puberty due to a lack of sex hormones, right?

[@SmellyElly01]

Why do you get an increase in testosterone in 11β- hydroxylase deficiency?

[@sashas3362]

I wonder if adrenal hyperplasia may explain AIDS. There appears to be a correlation between AIDS and adrenal dysfunction.

[@fictional25m]

A doctor gave me a dexamethsone sodium phosphate injection it caused an increase in androgen and now i lack other hormones specifically my joints sublux/dislocate (eds)much worse I also developed female secondary im 46xy but the prader scale is more useful on infants i have hypo/chordee/labia folds but after years of untreaded dsd (1981) (hospitals was lacking small town) but on my fathers deathbed i learned a secret when he recalled "they wanted to make you a girl" but my parents declined surgery...
at the same time having hormone effects no chest or back hair but hair started growing at faster rates (stubble in a 3 hour lapse 2cm hair and faster nail growth changes)scalp hair loss from dht/oil production,hormonal cycles resembling female typical "effects"(i dunno if i have additional internal features) cramping,bloating,mood,arousal,restless,fatique,mucus stool same time monthly i am only on spirolactone waiting to be accepted by genetics lab ive been in 4 years of misery even being sent down the transgender/wpath pathway and still no help it seams like i cant eat enough salt,sugar low bp,pots
but i know my mother had pcos father had x-linked situs inversus he craved salt he couldnt sleep without high salt foods hyperglycaemic like me i cant go long without eating
or mirror image twin's he produced 6 girls in a row my sister had mirror image twins
when i researched cah i asked to try the steroid treatment for cah so i could at least keep my joints in place my primary declined which shouldn’t be an issue since the hormones that need replaced are common but because of the sterotyping of being labeled with GID/GD from a surgeon who examined me from an er misdiagnosis after they though inguinal hernia since i dont have that "reflex of scrotal retraction" i told them I have had issues with one becoming stuck (retractable)
but after surgeon asked me whats my gender and I said i'm a girl it got labelled as gid/gd it ticks me off the urologist ive seen practically begging me for hypo surgery ive already had 1 surgery no more unless its for a female oriented part my hips developed female so i don’t have the space for what i have...
if you would be interested in my case let me know I understand about medical "advice" and legal issues...

[@SmellyElly01]

-Why do you get ambiguous genitalia in males and not females in 17,20 lyase deficiency? If 17,20 lyase isn’t working properly then there will be a decrease in DHEA so how is testosterone produced peripherally?

[@xDomglmao]

AFAIK: If you are female all the testo is doing for you is leading to axillary/ pubic hair/ activ. of sebaceous glands/ libido (apart from adrenarche etc.). If this is missing in adulthood only = no problem.
I remember a condition called "complete androgen insensitivity syndrome" which was more a blessing than a curse for the female "patient" as she would never sweat/ need to shave, quote:
"I didn't shower for 6 weeks and I don't stink".
About the ambig. genitalia in case of a male patient I'd say: No peripheral testo = no adrenarche = never got into puberty + no estrogen suppression

[@Kate-dk4po]

am I going to turn into a boy?

[@nishiyadav8720]

21 hydroxylase is recqired to make 11 deoxycorticosterone ,so why there is only increase in bp in 11 hydroxylase deficency?
pls explain
thanks in advance

[@Dorkfishe]

If you look at the steroidogenesis pathway, the 21 hydroxylse is upstream of 11 hydroxylase. So in 21-OH deficient patients, they cannot make either deoxycorticosterone or aldosterone. This means that they cannot take up Na+ and therefore unable to promote water retention. The blood volume will go down which causes hypotension. On the other hand, those with 11 hydroxylase deficiency are able to produce deoxycorticosterone but cannot produce aldosterone. But because deoxycorticosterone has mineralocorticoid action, meaning that they can bind to the mineralocorticoid receptor, Na+ can be reabsorbed thereby increasing oncotic pressure in the vessels. This results in increase water reabsorption, hence increasing blood pressure (hypertension). (And effect is enhanced probalby due to the accumulation of deoxycorticosterone because 11-hydroxylase is not working). Hope this helps x

[@atikahzulqaidah7459]

thank you

[@shadameemaz]

Thanks