Search Here

Scientists at Baylor College of Medicine have defined a new genetic cause for two types of birth defects found in newborn boys, according to a new research. 

"Cryptorchidism and hypospadias are among the most common birth defects but the causes are usually unknown," said Dr. Dolores Lamb, director of the Center for Reproductive Medicine at Baylor, professor and vice chair for research of urology and molecular and cellular biology at Baylor and lead author of the report, in a press release. 

Cryptorchidism is a condition in which one or both of the testes fail to descend from the abdomen into the scrotum during fetal development. Hypospadias is another congenital condition in males in which the opening of the urethra is on the underside of the penis. Both of these defects are usually surgically repaired during infancy. 

According to the press release, cryptorchidism occurs in about 3 percent of full term male births and hypospadias in about 1 in 125 births. 

Researchers used a method of genome wide screening called array comparative genomic hybridization to study the subjects with these defects. 

In the analysis, the team showed that the cause of these birth defects in a subset of children with these defects of testis and penile development resulted from a change in the number of copies of a gene, VAMP7, the press release added. 

"The birth defects were a result of microduplication on the X chromosome that altered estrogen receptor and androgen receptor action in ways not previously recognized," said Lamb.

According to researchers, the findings will help improve diagnosis and hopefully, ultimately treatment. 

The study has been published in the journal Nature Medicine.