A female patient presents for an evaluation for primary amenorrhea. She is noted to be short of stature and has short fourth metacarpals. What diagnosis do you suspect?
- XO
- XXY
- XXX
- XXXY
- Trisomy 21
Answer: A
XO
This is the genotype of Turner's syndrome. XXY is the genotype for Klinefelter's (which is a tall male with mild cognitive impairment). Trisomy 21 is Down's. The other two are not common genotypes.
Know Your Content Blueprint
Amenorrhea is covered in the NCCPA™ Content Blueprint Reproductive System (8%)
Review Topic: Amenorrhea