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NBME 20 Answers

nbme20/Block 2/Question#43

An 18-year-old woman comes to the physician because ...


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 +3  upvote downvote
submitted by step420(21),

This is mullerian agenesis. Normal ovaries but absent uterus.

endochondral   why not androgen insensitivity? +  
shaeking  I was wondering the same thing because doesn't androgen insensitivity also have normal female secondary characteristics. Was it the levels of hormones because she doesn't have abnormally high testosterone? +  
swb  Androgen insensitivity has the same presentation and symptoms. What's the clue that it is mullerian agenesis instead ? +1  
sugaplum  Testosterone would be high if it was androgen insensitivity FA 2019 Pg 625 +6  
charcot_bouchard  Testo would be high in AIS. in AIS pubic hair, axillary hair doesnt devlop because of androgen insensitivity. both have normal breast dev and primary amenorrhea +  
dickass  This is not androgen insensitivity because she has perfectly normal Estradiol, which means she has perfectly normal ovaries. She also has regular female levels of testosterone. +1  

 +1  upvote downvote
submitted by temmy(42),

i think it is not androgen insensitivity because the testosterone levels are normal. They should be high in AIS.

Mullerian Agenesis (aka: Mayer-Rokitansky-Kuster-Hauser Syndrome)

Underdevelopment of the Mullerian system leading to congential absence of the vagina. Usually no cervix or uterus.

May present as 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics. Functional ovaries allow for normal sexual characteristics and hormone levels.

 +0  upvote downvote
submitted by imgdoc(45),

I know it's tempting to think that this may be Androgen insensitivity syndrome but its not, for it to be AIS there needed to be an increase in testosterone. In this case it was in the normal range for a female. Now that we know the person is definitely female -> Mullerian agenesis becomes the best answer.