JAMA and Archives Journals

Study finds association between male birth defect and certain genetic mutations

Published in Clinical Oncology Week, December 1st, 2008

A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the November 19 issue of JAMA.

Cryptorchidism occurs in 2-4 percent of full-term male births. "Although cryptorchidism is often considered a mild malformation, it can seriously affect men's health, representing the best characterized risk factor for infertility and testicular cancer in adulthood," the authors write. The cause of cryptorchidism remains mostly...

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Source: Clinical Oncology Week (2008-12-01)

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