Chordee Without Hydospadiasを伴う一卵性双生児の47XXY,Klinefelter症候群

概要

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Although the incidence of Klinefelter's syndrome is approximately 0.2% of total male birth, identical twins with this condition are extremely rare and only twelve cases have been reported hitherto. Heren is reported a rare case of 17- year-old monozygotic twins with the 47 XXY chromosome constitution associated with chordee without hypospadias. At birth, their maternal and paternal ages were 39 and 44. Their growths and developments were entirely norml except some mental backwardness. Studies on blood antigens in the twins and the Parents revealed that the probability of monozygosity was 99.99% and that the X chromosome were originated from nondiSjunction of the maternal X chromosome, since Xg (a-) was found in the twins and their mother while Xg (a+) in their father. The concordant identical twins with Klinefelter's syndrome and the abnormalities of external genitalia; chordee without hypospadias has never reported in the available literature. We should say that the occurrence of these two malconditions are only coincidental so long as whether hypospadias and Klinefelter's syndrome have common etiology is unknown.
社団法人日本泌尿器科学会の論文