Endocrine Abstracts

Despite spermatogenesis is among the most finely regulated processes in our body, few genetic tests are currently routinely used in infertile males. These include analysis of karyotype, Yq microdeletions, CFTR and androgen receptor gene mutations, which collectively account for 15–20% of male infertility. Very little is known about the pathogenic mechanism leading to spermatogenesis disruption in many of these patients, especially those carrying Yq microdeletions. Recent ...

Klinefelter syndrome (KS) which affects 1–2- per 1000 males, is not only challenging for the patients and their families. Professionals, who manage KS patients need a much better scientific foundation for decision making in patient care. Surprisingly little research on how to manage boys, adolescents and men with KS has been carried out in comparison to management of other clinical problems like, e.g. Turner syndrome. One of the problems has been that management, which mu...

Azoospermia is a common condition of about 10% of all infertile men and this most severe clinical phenotype of male infertility can – in an otherwise healthy man – regularly be considered to have a genetic basis. An association of chromosomal aberrations and Y-chromosomal AZF-deletions with spermatogenic failure is well-established. However, since the latter were described over 10 years ago, basically no genetic causes have been found although many re-sequencing stud...