The mysterious case of a tall, infertile male

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1 D. Gary Benfield, M.D. After Tim Harris graduated from college, he landed a contract to play professional basketball, fulfilling a childhood dream. And just before the season started, Tim married Judy, his exceptionally smart and attractive college sweetheart. Growing up, Tim had always been the tallest boy in class. Now he stood six feet, ten inches tall and had enormously long arms. In fact, his wingspan almost equaled his height! Tim had always been a loner and had very few friends. Even though he studied hard, he had difficulty with math and performed low average in all his other subjects. After puberty, Tim was often teased in the locker room about his prominent breasts, which almost convinced him to give up sports. But his outstanding ability in basketball encouraged him enough to play for his high school team. After an outstanding high school career, Tim accepted a full scholarship to college to continue playing the sport he loved. After trying for more than two years to achieve a pregnancy, Tim and Judy consulted a fertility specialist who ran a battery of tests. One of the tests revealed that Tim had no sperm in his semen.

2 The couple was devastated by the news. After considering all their options, they decided adoption was the best choice for them. Six months later, they adopted a lovely six-month-old baby girl. One day, while showering, Tim noticed a small lump in his left breast. Thinking it was nothing to worry about, he ignored it and said nothing to Judy. But four months later, he noticed the lump again. Only this time it seemed larger. When he finally mentioned the lump to Judy, she insisted that he see a surgeon. The surgeon arranged for a biopsy, which revealed the diagnosis of breast cancer. After sitting down with the couple, the surgeon recommended that Tim have a mastectomy, which the surgeon performed a week later. Fortunately, there was no evidence that the cancer had spread. The surgeon also recommended that Tim consult with a geneticist. He suspected there was more to Tim s diagnosis of breast cancer than met the eye. Fortunately, the geneticist examined Tim more thoroughly than anyone before. The most striking finding was extremely small testes, even though the size of Tim s penis was normal. Suspecting that Tim had Klinefelter syndrome, a disorder in which a male has an extra female (X) chromosome, the geneticist ordered a blood chromosome study. 2

3 The absence of sperm is characteristic of this condition and is due to a failure of sperm production by the testes. The geneticist s clinical suspicion was confirmed by the blood study, which revealed the extra X chromosome, resulting in his having not the usual 46 but a total of 47 chromosomes in every cell in Tim s body. Klinefelter syndrome is common, not rare, as some would have us believe. It occurs in about 1 in 576 male births, with 6,000 to 7,000 born each year in this country. It is estimated that more than 200,000 males with Klinefelter syndrome live in the United States alone. The vast majority have remained undiagnosed with less than ten percent of the expected diagnoses made before the age of puberty. As you might guess, most men come to medical attention because of issues related to infertility. Clearly, genetic counseling is recommended for all men with this syndrome and especially if a pregnancy is being planned. Tim s childhood was characteristic for Klinefelter syndrome. He was tall with incredibly long arms, had some difficulties with learning, was shy and developed prominent breasts after puberty. While speech, language and learning difficulties as well as behavioral problems may hamper educational achievement in boys with Klinefelter syndrome, the majority have perfectly normal IQs. 3

4 Men with Klinefelter syndrome have an increased frequency of developing diabetes and heart disease. They also have an increased risk of developing breast cancer or non-hodgkins lymphoma. And since Tim s late mother had had cancer in both her breasts, this fact translated into a possible 50 percent risk for Tim. Thus men with Klinefelter syndrome should learn to palpate their breasts so they can recognize any change from normal over time. It s unfortunate that the majority of men with Klinefelter syndrome remain undiagnosed since regular treatment with testosterone will restore self-confidence, energy, sexual drive and bone density in these men who may have spent many unhappy years filled with self-doubt. Tim s story happened long ago, before DNA studies were available for diagnosing breast cancer risk. Nowadays, every male with a diagnosis of breast cancer is strongly urged to have a DNA study and if found to be mutation-positive, to recommend that his parents and grandparents and siblings and other family members be tested. This facilitates discovery of which side the mutation originated, enabling communication and timely diagnostic studies of more distant family members. Meanwhile, Tim has remained cancer-free while his family has happily grown to include three adopted children. 4

5 A further thought: This story about Tim and Judy is a work of fiction. However, the essence of their story concerning Klinefelter syndrome and the increased risk of breast cancer in these men is played out every day. The primary source for this article is Dr. Aubrey Milunsky s outstanding book, Your Genes, Your Health Gary Benfield 5