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Amy Movius, MD
May 14, 2013
Chances are, you have met somebody whose life has been affected by Klinefelter Syndrome, but didn’t know it. In fact, they might not know it either.
Klinefelter syndrome is the most common chromosomal disorder in males, and affects 1 in every 500-600 boys. This condition occurs when an extra X chromosome(s) is passed onto the baby. Whereas other disorders with extra chromosomes – such as Down’s syndrome – produce physical findings that are obvious, Klinefelter syndrome does not. Because of this it is estimated that only 25% of these boys/men, are ever diagnosed, and less than 10% are diagnosed before puberty.
This does not mean that boys with Klinefelter syndrome don’t have any symptoms. All of them have abnormally small testes and low testosterone levels. They also commonly have developmental challenges, especially with speech. The “typical” boy/man with Klinefelter is very tall, has narrow shoulders and broad hips, very little body hair, gynecomastia (extra breast tissue) and small testes. These patients can have behavioral and learning challenges, psychiatric disease, increased risk of some cancers, increased type II diabetes, fractures due to low bone density, and a host of other problems. They are generally sterile.
Unless the syndrome is detected by prenatal testing, baby boys with Klinefelter Syndrome are rarely diagnosed. Toddlers may come to diagnosis during evaluation for speech delay, which at least 50% of patients have. Currently, patients who are diagnosed before puberty are suspected of having the more severe physical and behavior symptoms. More patients are diagnosed when puberty is delayed or incomplete. Adult men are diagnosed often when seeking medical help for infertility or develop male breast cancer.
Missed diagnosis means missed treatment. Treatment of these patients should be multidisciplinary and may include speech therapists, psychologists, neurodevelopmental specialists, primary care providers, endocrinologisst, urologists and fertility specialists. All patients with Klinefelter should start lifelong testosterone therapy at puberty. This therapy can promote normalization of body proportions and more normal secondary sex characteristics. It is reported to improve general behavior and work performance and may reduce the chance of developing osteoporosis, breast malignancy, diabetes and other problems.
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2. Bojesen and Gravolt, Klinefelter Syndrome in Clinical Practice. Nature Clinical Practice, Urology. April 2007 Vol 4 No 4 OR www.nature.com/clincalpracticedoi:10.1038/ncpuro0775
3. Visootsak and Graham, Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies. Orphanet Journal of Rare Diseases 2006, I:42 OR www.ORJD.com/content/1/1/42
4. Bojesen et al, Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study. J Clin Endocrinol Metab 88:622-626, 2003