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NBME 24 Answers

nbme24/Block 2/Question#49

A 17-year-old girl comes to the physician because ...

Increased serum testosterone concentration

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 +19  upvote downvote
submitted by lsmarshall(216),

Androgen Insensitivity Syndrome - Defect in androgen receptor resulting in normal-appearing female (46,XY DSD). Functioning testes causes increased testosterone at puberty, which is converted to estrogen peripherally, giving female secondary sexual characteristics (female external genitalia). Lack of androgen receptor function leads to absent or scant axillary and pubic hair. Patients have rudimentary vagina, but uterus and fallopian tubes absent.

Androgen insensitivity syndrome is the answer but you might have considered Müllerian agenesis (Mayer-Rokitansky- Küster-Hauser syndrome).

Mullerian agenesis will have normal hormone levels and may present as 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries). Hair development is normal as well. Patients also have normal height.

Seems like this question did not give us much to distinguish besides height and tanner stage 1 pubic/axillary hair.

dbg  100% agreed. Mullerian agenesis was on my mind too. The full breast development kept me fixed at this dx. Did not think how high testosterone at this age and insensitivity would push towards peripheral conversion to estrogen and hence breast development. Thanks. +  

 +18  upvote downvote
submitted by seagull(467),

at BMI 15 not only has she never had a period but she never had a meal.

sympathetikey  You're on fire man lol +  
monkey  How the fuck is it not related to anorexia nervosa is beyond me. +