Roanoke Times
Copyright (c) 1995, Landmark Communications, Inc.
DATE: TUESDAY, January 4, 1994 TAG: 9401040036
SECTION: EXTRA PAGE: 1 EDITION: METRO
SOURCE: Jane Brody
DATELINE: LENGTH: Long
The condition, one of the most common genetic abnormalities known, is called Klinefelter syndrome. It is named after Dr. Harry Klinefelter, a Boston physician who 51 years ago published a report about nine men with enlarged breasts, sparse facial and body hair, small testes and an inability to produce sperm.
Some 15 years later, geneticists linked the syndrome to a mistake in the formation of the egg or sperm that results in boys' being born with an XXY pattern of sex chromosomes instead of the XY pattern found in normal males.
Genetic screening of 40,000 newborns conducted from 1964 to 1974 by Dr. Arthur Robinson, a pediatric geneticist at the University of Colorado Medical School in Denver, found that from 1 in 500 to 1 in 1,000 boys is born with the XXY pattern.
Unlike Down syndrome, which becomes far more common among the children of older parents, the risk of XXY increases only slightly with parental age. No other risk factors are known. The formation of an XXY embryo seems, rather, to be an accident of nature.
"Prospective parents who race to the library to look up Klinefelter syndrome are often thrown into a panic," says a woman who asked to be identified only as Melissa A., of Roseville, Calif., to protect the privacy of her 13-year-old son with XXY. After reading about the worst cases, most choose to have an abortion because they mistakenly think that their sons will be freaks.
Yet, as Melissa has found, the extra X chromosome does not turn boys into girls or even render them especially effeminate.
It can, however, cause a variety of problems, from language, reading and other learning disabilities and behavioral problems to breast enlargement and infertility, many of which respond to therapy that enables the youngsters to lead normal, productive lives. When prospective parents are given the full picture, Robinson said, two-thirds choose to continue the pregnancy.
When Melissa's son was found to be XXY five years ago at the age of 8, after blood tests were done to see why he was suffering from inexplicable and severe learning and emotional problems, Melissa was hard-put to find anyone else who had a son with this condition.
The reports she gleaned from medical textbooks painted a grim picture of abnormal social misfits. In desperation, she sent a letter to Ann Landers, and after its publication she was flooded with more than 1,000 responses from parents of XXY sons and from XXY men all over the United States, Canada and abroad. Through these contacts, Melissa established a support group
and information network for XXY males and their families. She learned that most XXY boys seem normal from outward appearances. "Looking at them, my son included, you cannot distinguish them from normal boys," she said. "KS," as she calls the condition, "is highly variable, and most boys with it are just like other boys."
A vast majority never even find out they have this extra chromosome until and unless they undergo tests for infertility, when their wives fail to get pregnant. The only symptoms found invariably in XXY men are small, underdeveloped testes and sparsity of sperm.
Robinson, now nearly 80 and still active professionally, has been following scores of XXY boys identified at birth and he corroborates what Melissa has found. "They are perfectly normal-looking newborns," he said in an interview. "They are not part female; they look like boys and act like boys, and when they grow up they have sex and get married."
Still, many young boys with XXY have problems that can impair their academic and social development, problems like learning disabilities that can be overcome or compensated for if they receive appropriate therapy. The problems are not unique to XXY boys.
As Robinson said: "Most of the symptoms associated with XXY can occur in perfectly normal XY males. Even the degree of breast enlargement at puberty, which affects a third of XXY boys, is not too much greater than occurs in overweight adolescent boys."
The important thing, he and other experts emphasize, is not necessarily to know from the moment of birth that a boy is XXY but to recognize language difficulties and get them treated early, before speech and reading problems impair school performance and damage self-esteem. Melissa's son had
suffered from seemingly inexplicable learning and emotional problems.
She recalled: "He had speech and language delays, learning disabilities and a host of behavioral problems _ mood swings, intense anger and suicidal notions at age 7. He'd been in six schools by age 7; the sixth placed him in a class for mentally retarded children, which is when he became severely depressed and tried to kill himself."
Then, through tests suggested by the boy's pediatrician, including a $400 analysis of the boy's chromosomes done from a small blood sample, the real reason for his problems was uncovered.
He was neither mentally retarded nor emotionally disturbed. He simply had an extra X chromosome.
At 11, the onset of puberty, he was started on injections of testosterone, the male sex hormone his testes failed to produce. Like a miracle, within weeks his problems faded like a bad dream.
"Now my son is doing fantastically," she said. "He's in a regular school, belongs to the Boy Scouts, and he'll grow up and go to college just like other intelligent boys." And while he will never be able to father children, many other men with normal chromosomes are also infertile, she said.
Those boys whose breasts become embarrassingly large during adolescence - a problem in about 10 percent of XXY boys - can undergo surgical breast reduction. But though no way has been found to stimulate testicular growth, the small testes do not interfere with a normal sex life. Bock's
31-page booklet, "Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families" (NIH Publication No. 93-3202), contains an extensive description of the XXY condition, its diagnosis and treatment, and includes a list of diagnostic and therapeutic resources. It can be obtained free by writing to the National Institute on Child Health and Human Development, PO Box 29111, Washington, D.C., 20040 or by calling (301) 496-5133.
To join a support group or to subscribe to an XXY newsletter published three times a year ($10 a year), write to KS and Associated Disorders, P.O. Box 119, Roseville, Calif., 95678.
by CNB