Emory University geneticist and developmental pediatrician Jeannie J. Visootsak, MD, FAAP, was recently recognized for her dedication to the research, understanding, and commitment to increase the awareness of Klinefelter syndrome, the most common sex chromosomal conditions in humans.
Dr. Visootsak was honored with the American Association for Klinefelter Syndrome Information and Support (AAKSIS) Achievement Award at the organization's sixth national conference on July 29. Governor Sonny Purdue also declared the day as Klinefelter Syndrome Awareness Day in the state of Georgia.
"I appreciate the award tremendously since it came from the parents of children with Klinefelter syndrome," says Dr. Visootsak, an assistant professor in the department of human genetics, Emory University School of Medicine. "We've worked together for many years to increase awareness of the condition, and it's important that we continue to conduct research in this area in order to find meaningful interventional therapy to optimize the lives of boys with Klinefelter syndrome."
Also known as 47,XXY, Klinefelter syndrome occurs in males who have three or more sex chromosomes; at least two of them must be X chromosomes and one must be a Y chromosome. The normal male chromosome pattern is 46XY. Klinefelter syndrome occurs in 1 of 500 males, although the incidence may be higher since it is uncommonly diagnosed or misdiagnosed. The exact cause is unknown.
The abnormal number of chromosomes may result in several physical changes. The condition causes underdeveloped testicles, taller-than-average height, a feminine body build, and a high incidence of infertility. Because of primary testicular failure, the affected males do not produce enough testosterone and will need testosterone treatment for the rest of their lives, Dr. Visootsak says.
Males affected by Klinefelter Syndrome are also at an increased risk for conditions such as autoimmune disorders, type II diabetes, hypothyroidism, osteoporosis, depression, and dental problems.
According to one study, it is estimated that 65 percent of those with the disorder have not been identified. Persons with Klinefelter Syndrome who are not diagnosed, fail to receive the medical care needed to offset related medical problems and health risks.
Dr. Visootsak developed her interest in Klinefelter syndrome following her first research project as a fellow in Developmental Behavioral Pediatrics at Cedars-Sinai Medical Center between 2000-2003. Learning more about the syndrome, she saw that research about the condition was underrepresented.
"It's important that we conduct longitudinal prospective studies on these boys to gain a better understanding of their cognitive, behavior, and learning profiles," Dr. Visootsak says. "Since these boys have speech delays, it's important that they receive early speech therapy so as not to risk having academic challenges and behavioral problems."
Dr. Visootsak joined the Emory faculty in 2004 and currently directs the Down syndrome, Fragile X syndrome, and Genetic Management clinics. She is one of the few physicians in the United States with expertise in Klinefelter syndrome. Dr. Visootsak is a member of the American Academy of Pediatrics, the Society for Developmental and Behavioral Pediatrics, and the Society for the Study of Behavioral Phenotypes. She is also the Chairperson for the AAKSIS Professional Advisory Board.