A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report.
It's also helped clear up why some patients with delayed puberty have no sense of smell, said Dr. Lawrence C. Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics.
The WRD11 gene interacts with a transcription factor that appears to be involved in development of gonadotropin releasing hormones that enable sexual maturation as well as olfactory neurons in the brain, according to a study published in The American Journal of Human Genetics and funded by the National Institutes of Health. A genetic mutation can diminish or eliminate this important interaction, impairing puberty and the sense of smell.
This was first found in a patient with Kallmann syndrome delayed puberty coupled with the inability to smell. Next, a variety of WRD11mutations were identified in five other patients with delayed puberty, some of whom also had no sense of smell.
The findings provide insight into normal puberty as well as rare situations in which children don't sexually mature. "Even something that causes a rare disease can have an extremely important function in normal physiology," Layman said. A longer-term goal is finding better therapies for delayed puberty and perhaps alternative birth control methods.
Girls normally develop breasts by age 13 and menstruate by 15. Boys' testicles generally develop by age 14. Sex hormones can be prescribed to prompt puberty when it is delayed but more complex and expensive therapy is required to enable fertility. The therapy can lead to multiple births and related problems such as prematurity.
Layman, who receives blood samples of children and young adults with delayed puberty from across the globe, said the misplacement of portions of two chromosomes in the Kallmann patient worked like a global
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Medical College of Georgia