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covid2019
I'm confused that they said she appeared "normal". I thought AIS would mean the patient has very scant pubic hair / underarm hair. Wouldn't this be abnormal in a 17 year old? Should have Tanner stage 5 hair....
+2
mumenrider4ever
FA2020 (pg. 639) describes AIS as "Defect in androgen receptor resulting in normal-appearing female (46,XY DSD)" so I assume they're talking about general outwards appearance
+2
lola915
You do get breasts because patient has build up of testosterone that is aromatized into estrogen. No axillary or pubic hair because that requires testosterone.
+2
lovebug
THX. SEE AIS (FA19 pg,625)
+1
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turtlepenlight
This makes sense, but I was thrown off by the "normal-appearing" b/c wouldn't AIS pts not have pubic hair?
+1
drzed
They just say it's a normal appearing 17 year old girl; not that the external genitalia are normal appearing.
+2
macroorchidism
Yeah the "normal" look was referring strictly to appearance (body + genitalia) not secondary characteristics. I was also between AIS and Turner (because I didn't know chromatin-negative meant at the time), so another thing that helped me was I recently found that Turner syndrome patients are actually NOT completely infertile (they have like a 2% chance to fertilize). That helps me remember the internal female structures are there, I just picture them more as "empty."
+1
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meningitis
The above explanation is correct (disregarding the hard to read and unprofessional dialect) but just in case anyone was wondering:
chromatin-negative= Just a quick way of knowing it was a boy. The term applies to the nuclei of cells in normal males as well as those in individuals with certain chromosomal abnormalities
+17
yotsubato
Turner syndrome patients are also chromatin negative as well though....
+6
sympathetikey
I didn't know a complication post-meningitis was lack of humor.
+6
sympathetikey
Ah, didn't read the last line. Yeah, that is taking it a bit far
+32
niboonsh
yall are haters. this is the first explanation that has ever made sense to me
+7
whoissaad
How does chormatin-negative indicate a normal cell? Isn't chormatin just condensed DNA?
+2
cienfuegos
According to this paper most individuals with Turner Syndrome are chromatin negative: "One of the initial laboratory procedures used to confirm or rule out this diagnosis involves a sex chromatin determination from a buccal smear. Cells from the lining of the mouth are stained for the presence or absence of X-chromatin or Barr bodies, which represent a portion of an inactivated X chromosome. The typical Turnerโs syndrome patient, who has 45 chromosomes and only one sex chromosome (an X), has no Barr bodies and is, therefore, X-chromatin negative.
This abnormal X-chromatin negative finding in the majority of Turnerโs syndrome females is similar to the result found in a normal male, who also has only one X chromosome, and differs from the X-chromatin positive condition observed in the normal female, who has two X chromosomes. Occasionally, the patient with features of Turnerโs syndrome is found to be X-chromatin positive."
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233891/
+2
hyperfukus
i really hate haters this is awesome!
+2
selectuw
to add to the above, free testosterone is aromatized to estrogen leading to breast development
+1
misrao
Is the free testosterone not creating male internal or external gentalia because of the defect in androgen receptors?
+1
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submitted by โergogenic22(401)
chromatin negative = no barr bodies = person with XY genotype or XO because anytime you have more than one X chromosome you have a barr body (chromatin positive)