Klinefelter’s Syndrome – Too Often Overlooked

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The cover story of this months edition of Endocrinology Today (Feb 2015) features Klinefelter’s Syndrome. With around one in 450 males affected by KS and only 70% diagnosed, the aim of this article is to raise awareness within the medical community to help detect and treat KS males.

Klinefelter’s Syndrome, a chromosomal disorder (47XXY), is one of the most overlooked causes of androgen deficiency. In teenage years and adulthood tell tale signs include small firm testes (less than 4ml), gynecomastia, decreased beard and pubic hair growth, reduced libido and erectile dysfunction. A KS male may also have long legs relative to body length, narrow shoulders and broad hips. Despite these signs many men are not diagnosed until fertility issues arise. In childhood the signs of KS are also mostly overlooked – undescended testes, taller stature, abdominal body fat, smaller testes. However if these physical signs are coupled with speech and motor delays, learning difficulties or attention deficit disorder, KS should be investigated.

Treatment of KS involves reversing the  androgen deficiency by replacing testosterone. Ideally, if diagnosed early, this will occur during puberty to encourage virilisation of the KS boy however it is important to note it is never too late to start testosterone therapy. Although testosterone will encourage physical adult male characteristics such as beard growth and increased muscle mass, the emotional well being of those diagnosed with KS must also be considered, and counselling/psychological help offered. For some KS males diagnosis finally offers an answer to lifelong questions about themselves.

To improve patient outcomes, the authors of this article encourage their medical colleagues to perform a simple testicular examination as early as possible in adult life to increase the diagnosis rates. Testosterone replacement therapy is easily accessed and many options are available, early diagnosis and treatment is the key.

www.checkyourballs.com.au is a Lawley Pharmaceuticals health initiative to raise KS awareness. The website contains lots of useful information for men with KS and health professionals alike. If you or a family member displays signs of KS please contact your doctor for further advice.

Click here for the article abstract.

All articles in Endocrinology Today are written and peer reviewed by Australian medical professionals. 

If you would like to learn more about Klinefelter’s Syndrome, click on the booklet below.

Understanding Klinefelter Syndrome

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