|
By Melissa Tennen, HealthAtoZ writer
When Peter Kronenberg found out his unborn son Andrew had Klinefelter's syndrome, he was stunned. And then baffled.
"My wife's obstetrician diagnosed it, but didn't go a good job of explaining it," he says. "The doctor used old research that said children with this all become criminals and are mentally retarded."
The words smacked hard and were not true.
Pure luck led the couple to a retired doctor whose niece worked at the National Institutes of Health. She explained what Klinefelter's was and that the condition did not mean their son was doomed.
"Andrew is doing great. All the therapy he's gotten has really made a difference," Peter says. "He's reading at the top of his grade level."
Extra female chromosome in a male
Klinefelter's, or XXY syndrome, is a common yet extremely under-diagnosed condition only found in males. Seventy-five percent are not identified. About one in 500 males has this abnormality, which means they are born with an extra X chromosome. Many children are never diagnosed because the signs are far less obvious than that of Down's syndrome. The boys do not look unusual or have major birth defects.
"There's really no way for a pediatrician to identify which children have this disorder," says Carole Samango-Sprouse, Ed.D., a neurodevelopmentalist, director of the Diagnostic Center for Young Children and an associate clinical professor in the department of pediatrics at George Washington University in Washington, D.C. "There are children sitting in elementary and high schools with learning differences or failing right now who have this disorder and don't know it."
"Children are usually identified during adolescence because of delayed puberty or through prenatal screening because of advanced maternal age."
Pregnant women over 35 often get a test called amniocentesis, which is meant to detect chromosomal abnormalities such as in Down's syndrome in the fetus.
The advantage of diagnosing it while the baby is in the womb is that treatment can start within months of birth. Most children with this disorder have language-based learning disabilities, including problems with speech and written composition, reading and auditory processing.
"The brain is most plastic in the first five years of life. If you can address these problems early, you eliminate the secondary problems, and learning disabilities may be reduced to learning differences," Samango-Sprouse says.
Doesn't affect intelligence
Learning disabilities do not mean the child is limited intellectually.
"These kids have perfectly normal IQs," says Wolfram E. Nolten, M.D., F.A.C.P., associate professor of medicine in the division of endocrinology, diabetes and metabolism at the University of Wisconsin in Madison and a board member for The American Association for Klinefelter Syndrome Information and Support.
Not every child with XXY will have all of the typical traits listed below:
- Talking later than other children
- Trouble with coordination and agility
- Low muscle tone which affects coordination, walking, jumping and hopping
- Language-based learning problems
- Shyness especially when speech is atypical
- Depression and anxiety
- Unusually tall (average height is more than 6 feet)
- Swelling of breast tissue and absence of body hair during puberty
- Small genitals after puberty
Testosterone shots, patches or gels can be highly effective for these XXY males, Nolten says. Usually, such treatments are started shortly before or during puberty. But they can be started at any time.
Men with low testosterone may have symptoms similar to those seen during menopause in women - hot flashes, increased irritability, inability to concentrate and depression.
Most men with XXY cannot father children. However with new assistive reproductive technology, some men produce biological children.
Andrew's success story
Peter's son Andrew has had difficulty with speech, motor skills, processing and reading comprehension. To help Andrew, Peter and his wife held him back a year in kindergarten. Samango-Sprouse often encourages parents to do this so the child has enough time to adjust to the demands of school and mature in reading, language skills and socially.
Last year Andrew attended first grade for part of the day and kindergarten in the afternoon. "This school year, he is in a regular first grade class and is doing well.
"I don't think there have been any big surprises. We knew what the issues were going to be," he says. "The best thing for parents is to learn as much as you can and get therapy as early as possible."
"It is always better to treat early," Samango-Sprouse says. "Early identification and treatment can make a world of difference for the child and his family."
|
Related Articles
|
|
External Sources
 |
The American Association for Klinefelter Syndrome Information and Support
|
|
The National Institute of Child Health and Human Development
|
|
This article was reviewed and updated June 2007.
Return to the previous page
|
