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Question 8#

The following are TRUE about Klinefelter’s syndrome except:

A. Affected male has 47, XXY genotype
B. It affects 1 in 650 males
C. Androgen replacement may be needed as patient ages
D. Seminomatous germ cell tumours are more common in these patients
E. Karyotyping is used for diagnosis

Correct Answer is D

Comment:

Answer D

The Klinefelter’s syndrome is the most frequent sex chromosome abnormality. Testosterone levels may be normal or low. Germ cell presence and sperm production are variable in men with Klinefelter’s mosaicism, 46,XY/47,XXY. These patients have 50 times higher risk of germ cell tumours which usually contains non-seminomatous germ cells and present at an earlier age and seldom are gonadal in location.