Illuminating Klinefelter syndrome

6 December 2019

In her exclusive column for The Pharma Letter, this month Dr Nicola Davies identifies progress being made within the therapeutic area of Klinefelter syndrome (KS), also known as 47,XXY or XXY.

One too many Xs

Individuals with Klinefelter syndrome (KS) have 47 instead of 46 chromosomes, the extra one being an additional copy of the sex chromosome X. The prevalence of KS ranges from 85 to 250 per 100,000 live born males, with significant underdiagnosis especially before adulthood due to the complexity and variation of its clinical manifestations. 1

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