15th April 2024

Presentation

Patients with mosaic Klinefelter’s syndrome tend to have a milder form of the condition and if the karyotype located in the testis is of the 46, XY type spermatogenesis is normal, patients with more than one extra copy of the X chromosome tend to have a more severe presentation.  The characteristic phenotype associated with Klinefelter’s includes:

• Small firm testis
• Above average height
• Erectile issues
• Sparse male-pattern body hair
• Bilateral gynaecomastia
• Infertility