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free120/Block 2/Question#33 (14.4 difficulty score)
A 17-year-old girl has never had a menstrual ...
Androgen insensitivityπŸ”,πŸ“Ί

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submitted by benwhite_dotcom(488),
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submitted by waterloo(76),

Just to add to explanation. Answer is not congenital adrenal hyperplasia, because pt has normal breast development and normal external genitalia. most common type 21-hydroxylase def would have precocious puberty or clitoral enlargement. Questions says patient has normal appearing external genitalia. 17a-hydroxylase def would lead to ambiguous genitalia in XY and in XX there would be no secondary sexual development because lack of sex steroids. But again, question says pt has normal breast development and external genitalia. In 11B-hydroxylase def, XX would have virilization, again not applicable here.

ectodermal dysplasia would have more characteristics like abnormal teeth, other abnormal findings from ectodermal layer.

a psych disorder could throw you off, maybe patient is not eating enough and is not having a period. But they said normal female body habitus, so I think that seems less likely compared to androgen insensitivity.

Sex chromosome mosaicism made me think of Turner Syndrome. There is a unique body habitus for Turner Syndrome so makes this a wrong answer.

submitted by myriad(0),

Just wondering, could this patient's presentation also be the result of an Imperforate Hymen or Transverse Vaginal Septum? I was looking for those in the answer choices, and thought Ectodermal Dysplasia might be referring to either of those.

zolotar4  so was curious, found on wiki - "If untreated or unrecognized before puberty, an imperforate hymen can lead to peritonitis or endometriosis due to retrograde bleeding." - our patient has no symptoms besides never having a menstrual period and probably would've been seen in the clinical presentation. +