Two Genetic Defects Discovered in Newborn Boys

Researchers have discovered a new genetic issue that may be responsible for two types of birth defects found in newborn boys, known as cryptorchidism and hypospadias.

"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, via a press release. 

Cryptorchidism occurs in about 3 percent of full term male births, a condition in which one or both of the testes fail to descend from the abdomen into the scrotum during fetal development. Hypospadias, on the other hand, occurs in about 1 in 125 births, when the opening of the urethra is found on the underside of the penis.

After using a method of genome screening known as array comparative genomic hybridization to better study the subjects with certain defects, researchers found that a further analysis showed that the cause of the birth defects in a subset of children with the defects came from a change in the VAMP7 gene copy.

"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.

Researchers said they believe that these findings could help to better diagnose and treat the issue in the future.

More information regarding the findings can be seen via the journal Nature Medicine.