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Author9 Posts
  #1

A 16 year-old female comes to your office complaining of amenorrhea.
Physical examination reveals a normal female body habitus except for scant axillary and pubic hair. Pelvic examination reveals a shallow vagina with no cervix. A mobile mass can be palpated in the left labium majorum. Ultrasonographic examination reveals a complete lack of uterus and adnexal structures.
what is the likely diagnosis and
Which of the following chromosomal complements would you be most likely to find with this patient after karyotype analysis.

A. 45, X
B. 47, XX, +21
C. 47, XXY
D. 46, XY
E. 69, XXY

A 45-year-old mother brings her newborn girl (6 months old) to your office. On physical examination you find short ears, excess skin at the back of the neck, mongolian slanting, epicantal folds and a single palmar crease. The most common cause of this syndrome is:

A. chromosomal translocation
B. non disjunction during maternal meiosis
C. tri-nucleotide repeats
D. large chromosomal delition during paternal meiosis
E. point mutation




  #2

1 C
2 B


  #3

1. D
2. B


  #4

D, B also


  #5

alina mani u both r right


  #6

for amitjosh, 1 is CAIS, mass in the labium majus is testis, a typical scenario


  #7

Thanks Mani


  #8

CAIS : did u mean Congenital Androgen In Sensitiviy?

Other names for these condition are

A. testicular faminization
B. Male pseudo hermaphrodite

Am I right?


  #9

yep





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