#AUA14 - Klinefelter’s syndrome: An under diagnosed and under treated cause of male infertility - Session Highlights

ORLANDO, FL USA (UroToday.com) - Klinefelter’s syndrome (KS) is considered to be the most common cause of genetic male infertility. Dr. Daniel T. Oberlin hypothesized in their study that KS is not well diagnosed and it may be associated with co-morbidities that need medical attention. They presented on their finding during this poster presentation.

This was a retrospective study in which the authors evaluated patients with KS. All patients had their records evaluated for the presence of physical examination findings in addition to other exams including laboratory values and bone mineral density testing results.

auaOf the 1.1M males who were identified in the search, 39 were diagnosed with KS. In their cohort, 82% of the men with KS had hypogonadism and 65% had gynecomastia. Interestingly, as authors presented in their results, only a minor percentage of patients had bone mineral density testing and lipid testing.

At the end of the presentation, Dr. Oberlin concluded that Klinefelter’s syndrome is largely under diagnosed. The most important conclusion as presented today at the AUA 2014 conference included the finding that comorbidities such as hypogonadism, osteopenia/osteoporosis, and obesity are not usually looked for in this population. Thus, it is important, according to the discussion that followed, to evaluate patients more closely if they do, indeed, have a diagnosis of KS. Discussion after the presentation brought up the idea of looking into mosaic KS cases as these may have greater significance with regards to comorbidities. A limitation of the study included the abstraction of data because authors only searched for the diagnosis code of Kleinfelter’s syndrome instead of looking into progress notes in the medical record.

Presented by Daniel T. Oberlin at the American Urological Association (AUA) Annual Meeting - May 16 - 21, 2014 - Orlando, Florida USA

Chicago, IL USA

Written by Garen Abedi, MD, University of California (Irvine), and medical writer for UroToday.com