Low-Dose Androgen Therapy and Early Puberty in Boys With Klinefelter Syndrome

Shanlee Davis, MD, University of Colorado, Children’s Hospital Colorado spoke with MD Magazine at ENDO 2017 in Orlando, Florida about a cohort of pre-pubertal boys with Klinefelter syndrome who were given low-dose androgen treatment.

Occurring when boys are born with an extra x chromosome (instead of the typical xy karyotype, they have an xxy karyotype), Klinefelter Syndrome is actually very common — 1 of 600 boys have this condition, but it’s really under-diagnosed and under-recognized. Recently; however, there’s been a commercialization of a pre-natal screening test that has identified more and more infants with Klinefelter Syndrome.

According to Davis, some studies recently have proposed that androgen replacement may help with certain features of this syndrome including the neurodevelopmental delays as well as cardiometabolic deficits. Davis and her team were interested in the effects of this pre-pubertal androgen treatment on the testicular function, or puberty.

As part of randomized controlled trial, they administered androgen treatment in the form of oxandrolone, a low-dose oral androgen treatment. They discovered that these boys were experiencing puberty earlier — not just pubic hair, which can be the direct androgen receptor stimulation from the oxandrolone, but they were also experiencing gonadarche.

Given the results, an alternate treatment option is suggested; Davis said they would probably consider an even lower dose that can help with the neurodevelopmental and cardiometabolic manifestations of Klinefelter Syndrome. Future research might focus on using what’s being done in the “adult world” as far as cardio-metabolism and understand at why these boys with an extra x chromosome is at an increased risk of cardiometabolic disease, Davis concluded.