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Genetic Links to Male Birth Defect

Ivanhoe Newswire


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(Ivanhoe Newswire) -- Whats considered a mild birth defect in baby boys can lead to big problems later in life. However, new findings may help doctors identify and treat the condition earlier.

Cryptorchidism -- the failure of one or both testicles to descend into the scrotum -- affects between 2 percent and 4 percent of full-term baby boys in the United States and is the most common congenital birth defect in male children. However, a new study finds this early life condition can cause trouble decades after treatment.

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It can seriously affect mens health, representing the best characterized risk factor for infertility and testicular cancer in adulthood, study authors wrote.

While the cause of cryptorchidism is mostly unknown, Italian researchers found genetic alterations in some patients, perhaps shedding light on this mysterious condition.

Although the absolute frequency of genetic alterations among boys with cryptorchidism was low (2.8 percent), it was significantly higher than boys without the condition. Boys with persistent cryptorchidism (since before birth) were 17 times more likely to have a genetic alteration than those without the condition, while the odds for boys with bilateral cryptorchidism (when both testes are affected) were 27 times that of unaffected boys.

Researchers report the most common genetic findings were Klinefelter syndrome (a chromosome condition that is the most common genetic cause of male infertility) and mutations in the INSL3 receptor gene (a regulator of testicular descent).

SOURCE: The Journal of the American Medical Association, 2008;300:2271-2276

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This article was reported by Ivanhoe.com, who offers Medical Alerts by e-mail every day of the week. To subscribe, go to: http://www.ivanhoe.com/newsalert/.




Last updated 11/21/2008

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