Skip to main content

Clue found to penis birth defect


Scientists have identified a gene which may play a role in a common defect affecting the genitalia of baby boys.

Hypospadias, which affects one in every 375 boys, is the result of incomplete development in the womb.

The latest research, in the journal Nature Genetics, found a gene which, when mutated, more than doubled the risk of the condition.

A UK researcher said it may help explain why hypospadias runs in families.
 
In boys who have the malformation, the opening of the urethral tube is not at the tip of the penis, but either further down the penis, at its base, or even further back, in the scrotum.

The normal solution is surgery at a young age, but even when corrected in this way, there can be long-term medical, psychological and sexual consequences.

The problem starts during the development of the sexual organs in the womb, and while there have been suggestions that exposure to environmental chemicals early in pregnancy may contribute, evidence to support this is not conclusive.

The only reliable clue has been the fact that the condition is more likely if a male relative has suffered it - pointing, at least in part, to a genetic origin.

Scientists had already found a gene playing a significant role in a more severe form of hypospadias, but the genetic mutations contributing to the more common, less severe version, have proved elusive.
Environmental factors 'trigger'

Researchers from King's College London, and Radboud University Njimegen Medical Centre in the Netherlands joined forces to carry out a large scale genome study.

This compared the genetic code of hundreds of boys, with and without the condition, to uncover genetic mutations which appeared more commonly in those with hypospadias.

They found that boys with a mutated version of the DGKK gene were 2.5 times more likely to be born with hypospadias.

Dr Jo Knight, from King's College London, said that this gene was found on the X-chromosome, which in boys can only be inherited from the mother.

She said: "We still don't know exactly how this causes the condition, so there is more research to be done to look at other genes and environmental factors that might trigger the malformation."

Professor Ieuan Hughes, a specialist in paediatrics at Cambridge University, said that it was likely that a number of genes acting together would be responsible for the condition.

He said: "People have been struggling for years to find out what the genes are that cause the common form of hypospadias, so this is an important study.

"However, it is certainly not clear how this gene might be creating the problem, and further work will be needed to confirm its involvement."

He said that although it had been suggested that environmental factors were contributing to hypospadias, he was "not quite convinced" that this was the case.

Comments

Popular posts from this blog

Reasons Why Your Hips Hurt

Hips Don't lie Inside the Joint Each hip is a ball-and-socket joint. The ball is the top of your thighbone (femoral head). The socket (acetabulum) is in your pelvic bone. Smooth, slippery tissue called cartilage lets the ball and socket glide against each other when you move. A thin lining (synovium) tops the cartilage and makes a bit of synovial fluid, which further eases rubbing.  Tendons, ligaments, and muscles complete the joint. Osteoarthritis It’s the “wear and tear” type of arthritis that many people get in middle age. Cartilage on the ball end of the thighbone and in the hip socket slowly breaks down and causes grinding between bones. You’ll have stiffness, and you might feel pain in your crotch and at the front of your thigh that radiates to your knee and behind. It’s often worse after a hard workout or when you don’t move for a while. Rheumatoid Arthritis With RA, your immune system attacks parts of your body, which can include the syn...

Anesthesia Before Age 2 Linked to Learning Problems

There are new concerns about an increased risk for learning problems in very young children exposed to general anesthesia during surgical procedures. Researchers from the Mayo Clinic in Rochester, Minn., found a twofold increase in learning disabilities in children who had more than one exposure to general anesthesia with surgery before age 2. The study is published in the November issue of Pediatrics. The FDA requested and funded the study. Last spring, an FDA panel met to review the research examining the effect of early exposure to anesthesia on the developing brain. Following the meeting, FDA director of anesthesia and analgesia products Bob Rappaport, MD, wrote that additional studies are needed. He noted that "at present, there is not enough information to draw any firm conclusions" about the long-term impact of early exposure to general anesthesia on the brain. The new study adds to the evidence linking repeated exposure to general anesthesia very early i...

FDA: 5 Death Reports for Monster Energy Drink

  The FDA is investigating reports of five deaths and a nonfatal heart attack in people who drank high- caffeine energy drinks made by the Monster Energy Company. Meanwhile, a Maryland couple has filed a wrongful death suit against the company, alleging that their product killed their 14-year-old daughter. They say Anais Fournier, 14, collapsed after drinking her second 24-ounce Monster Energy drink in two days. She died six days later. The reports are not proof that the drinks caused the deaths, but merely signal there might be a problem. Even if the deaths are determined to be caused by caffeine poisoning, the FDA will consider all sources of caffeine before blaming the deaths on the energy drink. In addition to caffeine, energy drinks contain other stimulants, including taurine and guarana , a caffeine-containing plant. Because energy drinks are sold as nutritional supplements, they are not regula...