Births of children with Down syndrome have sharply declined in recent decades for the worst possible reason: 92% of those diagnosed before birth with Trisomy 21 are aborted. Another common genetic anomaly, Klinefelter syndrome, is also often diagnosed in utero, with the same tragic result—due mainly to ignorance and fear.
I’d like readers to meet two people born with these chromosomal differences.* Then, you be the judge if boys with Klinefelter’s deserve to be killed before birth.
“Mom and Dad, I need some chemicals or hormones or whatever you call them,” 15-year-old David said. He was pleading with his parents to consult with the family doctor because he had not enetered puberty. He was embarrassed and taunted in gym class and teased throughout the school.
A trip to the family doctor brought some encouragement. “David will grow out of this soon, he is just a late bloomer,” their physician said. David didn’t buy this and looked at the floor and murmured something at the doctor while his parents and the doctor congratulated themselves for their collaboration.
In the next 18 months, other physical differences appeared which separated David and his peers. His voice did not deepen. His shoulders were not as wide as his hips. There were small testes. No matter how many push-ups he did, he never developed upper arm strength. He even discovered a lump on one breast. His doctor did watch that carefully but eventually it disappeared. As a senior in high school he still looked like an eighth grader. He never tried to date because he realized girls would probably turn him down.
David became increasingly belligerent at home and in school. He started to throw and break things and his mild reading problems became worse. Finally, his parents took him to a second pediatrician who took one look at David and said, “I’m pretty sure this is Klinefelter syndrome. Let’s order genetic tests.”
These tests took two weeks because special procedures were needed at the lab. When the results came back indicating Klinefelter syndrome (chromosome karyotype 47xxy) David looked relieved and told everyone “I knew something wasn’t right. Now what can we do about this?”
57-year-old Jonathan is a clinical social worker who is highly respected for his work as a family therapist. He displays compassion, understanding and a highly intuitive sense about understanding the complex problems, divided loyalties, and unhelpful alliances in troubled families. He has been happily married for 32 years and his two children were then finishing college.
On the weekday that he taught family therapy courses at a prestigious institute in a large city, he fell in his bathtub. His leg twisted as he went down, breaking the leg but protecting him from worse injury such as a broken hip. Nevertheless, he had to be hospitalized for a week.
A new specialist at the medical center, a "hospitalist"—someone who specializes in treating hospitalized people—believed in taking an extremely thorough life history for all his patients. Through this he often discovered other medical problems that had been overlooked, sometimes for decades.
During the interview, he learned that Jonathan experienced difficult teen-age years. Being a late bloomer who was small for his age, varsity sports were not open to him. He frequently went to the library after school,discovering that books were a vehicle that gave him the independence to go anywhere or learn anything.
By the end of college he felt much more comfortable around his peers and didn’t think he stood out from the group as he did in high school. Still, he remained unfocused as to a career and did not settle on the goal of becoming a clinical social worker until he was about 25. At this age, he accepted something he used to rue
—not having to shave every day.
Several years later he married and soon after started a family. He would self-deprecatingly refer to himself as a “house husband” because he actually liked doing chores and spending a great deal of time with his children. He developed a fine reputation as a family therapist due to his empathy.
The hospitalist reviewed all of Jonathan’s information at some length. He became concerned that the bone scan results showed the beginnings of osteoporosis. This explained why Jonathan’s leg had snapped in the fall, leading to a compound fracture rather than a less damaging simple break. The hospitalist had also ordered a leg sonogram because Jonathan reported he could not walk as far as he’d previously been able to. This showed the beginnings of vein reflux in one leg.
Something clicked and the hospitalist remembered a grand rounds presentation several years earlier. The patient at Grand Rounds had displayed a genetic condition called Klinefelter syndrome, caused by having an extra female chromosome in each cell. Instead of the normal grouping of 23 pairs of cells, each having one female (x) and one male (y) chromosome (46xy), there was an extra female chromosome, creating a 47th chromosome and the genetic notation 47xxy
The syndrome is named after Harry Klinefelter who, in 1942, first described it in a scientific paper. One of the best explanations of Klinefelter syndrome and its other very rare forms is given in the standard medical reference Basic Pathology by S.L. Robbins et al. (1981). A review of recent journals of genetics and endocrinology reveals virtually no research in the past two decades, suggesting a need for studies with subjects in the general population instead of studies using only institutionalized subjects.
Joanthan displayed some of the features of 47xxy–highly delayed adolescence, diminished secondary male characteristics (little facial hair), a physique that widened instead of narrowed from the shoulders, and now brittle bones and vein problems in the legs, physical symptoms often present in adults with Klinefelter syndrome.
Adults with Klinefelter may need to be screened for breast cancer, which has a rate of occurrence for them equal to that of the average woman. Jonathan was not sterile, and instead of being mildly retarded, displayed signs of high intelligence.
Having the luxury of a medical library on his laptop, the hospitalist did a few google searches such as “47xxy in adults,” “47xxy and sterility,” and “47xxy and intellectual functioning.”
He discovered that most men with 47xxy were not mentally retarded and that this belief came about because the studies done in the 1960s used “convenience samples” of subjects drawn from institutions or state hospitals. Later studies indicated that mental retardation was not usually a symptom, although there could be mild learning problems. In this group IQs were 10 points of fewer below the average of a random sample of men of the same age.
Although studies in recent decades highlighted sterility among men with 47xxy, some in fact had fathered children. There is even a rarer form of 47xxy called Klinefelter mosaicism (46xy; 47xxy) where only a percentage of cells have the extra female chromosome, hence the characteristics of 47xxy were diluted. Men displaying mosaicism often display intelligence up to the superior level and perhaps even higher. They often father children and are successful in the world.
Although genetic epidemiologists estimate that 47xxy occurs in up to 1 in 500 births, and 46xy; 47xxy is rarer, occurring in perhaps 1 in 25,000 births, these statistics may have to be revised, especially with respect to mosaicism, because many such men are so well functioning that the chromosomal difference has never been contemplated or explored.
Is there any treatment? If so, is treatment a simple or complex endeavor?
For young men in puberty, as in the case of David above, testosterone may be administered, a process called virilisation. However, there are complexities to this. In each case possible side effects must be considered.
Who decides whether testosterone treatment should be administered? Is it the choice of the young person with 47xxy or 46xy; 47xxy? Is the final choice up to the parents? What if the parents’ viewpoints differ? These issues need to be acknowledged and explored.
With adults, the issues of decisionmaking and permission are simpler, but weighing the effects and side-effects can be complex. Some men choose testosterone and discover that it helps allay the physical problems of osteoporosis and provides extra energy and assertiveness. But it can also sometimes cause anger problems and a feeling of “not being oneself.” Other men, particularly those with the 46xy; 47xxy mosaicism, simply decide to keep on living their life without treatment. A good number of them identify with and appreciate the so-called feminine qualities of gentleness, sensitivity, and compassion.
What are the philosophical and theological implications of 47xxy and 46xy;47xxy? There appear to be four areas worthy of analysis, and each may offer some helpful insights.
First, is 47xxy or 46xy;47xxy simply a normal variation of male chromosomal and physical identity? Aristotle and Aquinas would judge this to be a difference of degree rather than a difference in kind. End of story.
A second way to interpret this interesting genetic difference is to include it on the Intersex continuum. A more sophisticated definition of Intersex includes chromosomal anomalies as well as physical ones. This definition requires each case to be located along a spectrum of gender rather than in a binary male/female classification. A spectrum approach may be at odds with Catholic teaching, but at present there is uncertainty, as Catholic theologians and canonists have not studied this issue closely. It does make sense to wait until the scientific evidence is clearer.
A third approach, one often preferred by medical professionals, is to include 47xxy or 46xy; 47xxy as Disorders of Sexual Development (DSD). Others might argue that these combinations may even enhance and broaden the concept of masculinity, as suggested in the case of Jonathan. Turning this into a pathology, however, would not be helpful.
A fourth approach views genetics as a scientific field that is still in flux and still evolving. Between the genotype of 47xxy and 46xy; 47xxy and the phenotype there are countless genetic steps, many still unknown. This view suggests there is much to be discovered scientifically and that this takes precedence over establishing some “definitive” classification now.
Having briefly reviewed the science, let us now consider the human element. What of actual persons, like David and Jonathan, or the many undiagnosed persons with 47xxy or 46xy; 47xxy who are part of the grit and glue of humanity?
Klinefelter syndrome presently is the most frequently occurring genetic variation among human beings, even more common than Down syndrome. When genetic testing is performed during pregnancy, both Klinefelter syndrome and Down syndrome are identified. Tragically, abortions are often the result of such diagnosis.
In the case of Klinefelter syndrome, parents mistakenly assume that the syndrome is associated with mental retardation. Perhaps if it were more widely known that this is not the case, fewer children with Klinefelter syndrome would be aborted.
William Van Ornumis professor of psychology at Marist College and director of research and development/grants at American Mental Health Foundation in New York City. He studied theology and scripture at DePaul University.
*All cases are combinations of situations. All details have been changed according to professional guidelines so that no actual individual can be identified.
And today we celebrate...