Congenital Adrenal Hyperplasia (CAH) - 1 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...
Clinical Genomics: Practical Applications in Adult Patient Care. Ed. Murray M et al. McGraw Hill. 2014.

[@indefat]

This has to be the most well explained video on CAH I have found online. Thank you so much for this. I now can teach someone else with a similar approach.

[@aksvali]

All your lectures are excellent, from a resident who has put off learning genetic disorders for as long as possible. Thank you!

[@mohammedahmedjalloh531]

That moment you realize I have an exam and the questions are exactly the way he drew the diagram omg I love you sir

[@Hummingbubble]

Thank you! This is so well illustrated and I find it really helpful that all the information is included in a single view!

[@sunvavachi]

Nice lecture Dr. Boone...very helpful and precise. Its always hard to condense but its condensed to the right amount to remember.

[@yusefsma4916]

Clear explanation!
Easy diagram to remember!
High quality video!
Excellent style!
Thanks!

[@lakshmisundararajan6031]

Fantastic...the first time I actually understood what cah is....very clear and consice...thank you!

[@mchayacl]

Excellent!

[@domlikatrichkova5285]

Great video ! Thanks

[@dashabaliar2942]

Thank You!

[@jakemccluremd]

Videos are phenomenal

[@user-ef8xj8tn7l]

Great job , thanks a lot

[@qwerty007267]

thanks a lot!

[@tayyabriz9701]

Thank you so much for this video . I am revising my step 1 endo physio and this lecture makes it easy for me Thanks again Regards from USA

[@farhanaislam3387]

thank you so much 😊

[@evelinamissingo3806]

thank you

[@nournour7393]

i like your reviews. nice

[@poppy130]

at 5.24 you mentioned that the build up of 17-hydroxyprogesterone leads a DECREASE in testosterone however I think you mean that it leads to an increase in testosterone hence viralization....

[@QuickMedicalGenetics]

Indeed. Good catch! -Quick Medical Genetics

[@sashas3362]

@@QuickMedicalGenetics But it is claimed adrenal hyperplasia can cause decreased virilization. In other words, it can cause feminisation. How do you explain that? Perhaps I need to watch part 2?

[@nachiketgotphode8800]

thanks you very much you cleared the topic🙏

[@pashya1988]

thank u

[@namixless9732]

great video. one thing i noticed though is in the treatment tip at the end. the intersex community advocates against genital surgeries in infants. as someone whos intersex with CAH it doesnt sit we’ll recommending surgery as an option as it is unnecessary and the infant cannot consent to it

[@swatipandey4049]

Nicely explained....

[@summyneeno8279]

Thank u so m

[@slowlivinganjali6178]

I got diagnosed with non classical adrenal hyperplasia just 2 days ago. I'm trying to understand the diagnosis

[@vinu2304]

awesome video sir:-)

[@intensivecare5047]

thank you :)

[@Yazo0o7F]

Is there a transcript for this video? great info

[@Patmaf1]

Beautiful

[@Omar_hagras839]

Thank u

[@venkybly]

nice presentation
Tq

[@h.a7688]

thanks ....great info.😄😄🤓

[@deeveshsimathiri5654]

In non-classic congenital adrenal hyperplasia , is there deficiency of 21 hydroxylase as well ?

[@tubbsthebigcat]

Is it possible that I might have NCAH disease even though my testosterone (bio and free) is low? I also have low progesterone. My DHEAS are high (400+) but I don't know my total DHEAs or ANDRO levels. Not sure if I have to ever PCOS or NCAH and this stresses me out a lot. Gonna get tests soon but it costs a lot ...

[@sashas3362]

I'm confused because sources say 21-hydroxlase deficiency is the most common form at 95% of cases with 1 in 10000 diagnosed but recent studies have found that as many as 1 in 60 of the general population and as many as 1 in 3 within certain ethnic groups has 21-hydroxylase deficiency. So, which is it?

[@tonimarie8951]

That should be good though.. if adrenals are low, the thyroid should good.. which means that the person is calm? A stimulated adrenal gland means that the mind is stressed.

[@LNA444]

I guess it can't always be diagnosed by 17-oh‐progesterone due to female monthly rhythm, in which the increase may be masked.

[@natanakaidze1143]

5:29 increased testosterone?

[@answersaaa]

Great video!! would just appreciate larger letters to be able to read on a mobile screen. I had to take out my eyes and put it on the screen to read

[@uniquemedicalstudy8878]

please the word something large is very small handwriting

[@reemali4364]

thank you so much
there is increasement in testosterone

[@benjaminbartell2472]

I have a question about CAH? I have CAH!! My oldest sister has CAH! We are both homosexual and I have read about other people with CAH being homosexual. My question is could CAH have anything to do with homosexuality? This is a serious question? I am in my 30's and I have always wanted to know. Thank you.

[@kylebenjamin9931]

even though my reply is coming late, but yes. in CAH theres excess adrenal androgen which leads to exhibition of male characteristics, they may be cases of infertility.

[@annacamila_]

I have a psychology degree and I don’t believe that sexuality has anything to do with it. You could be extremely masculine and still be attracted to man. In the other hand we can have extremely feminine lesbian woman.

[@xDomglmao]

Following case: XX Pediatric patient suffering from CAH (21-OH-ase def.) with obvious virilization: will this affect the brain chemistry somehow?

[@doktordosiyeva2538]

Believe me 2 videos are not necessary

[@eulogy4anange1]

not all of them have genital problems.

[@chrisworth88]

thank you