Sunday, 20 February 2011

Picture for Klinefelter syndrome

The patient in the picture presents with gynecomastia and infertility. On exam, he has small, firm testes. Which of the following is correct?
a.The patient is likely to have low levels of gonadotropins

b.The patient has Turner syndrome

c.His most likely karyotype is 47 XXY

d.The patient will have normal sperm count and testosterone level

The answer is (c).
The picture of infertility,gynecomastia, and tall stature is consistent with Klinefelter syndrome and an XXY karyotype. The patient has abnormal gonadal development with hyalinized testes that result in low testosterone levels and elevated levels of gonadotropin. Turner syndrome refers to the 45 XO karyotype that results
in abnormal sexual development in a female.

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