Klinefelter related infertility: getting to know causes

Project Details


Klinefelter syndrome (KS) affects 1 in 600 newborn boys and is the most common sex chromosome abnormality. The symptoms may vary significantly between patients and include tall stature, learning disabilities, behavioural problems, breast formation, small testes and hypogonadism. Since KS is amongst the most frequent genetic causes of azoospermia in adult men, most of the patients are diagnosed when consulting a fertility clinic.

Azoospermia is caused by the degeneration of germ cells which accelerates at puberty. At birth, normal testicular histology is present, however after puberty degeneration and hyalinisation of the seminiferous tubules occurs, accompanied by hyperplasia of the interstitium and eventually, the testes may become totally sclerotic. However, in 50% of adult KS seeking to father children, spermatozoa can be found after testicular sperm extraction. The remaining half could benefit from testicular tissue banking at prepubertal age in combination with in vitro spermatogenesis. Unfortunately, to date, there is no means to predict whether a KS boy will be infertile at adult age and how severe the effect on fertility will be.

Therefore, the mechanism behind KS related histopathology of the testis is unknown and needs to be elucidated. We want to investigate whether the primary cause of SSC loss is intrinsic to the SSCs, associated with the testicular environment or caused by the altered X-linked gene dosage.

Positief advies ontvangen van de Commissie Medische Ethiek op 23/04/2015.
Effective start/end date1/10/141/05/21

Flemish discipline codes

  • Medical proteomics


  • biomedical sciences
  • infertility
  • proteomics