“Turner and Klinefelter Syndrome are rare chromosome defects, but common reasons for not producing estrogen and testosterone. An important goal, of course, is to help the patients I meet in the clinic, so that we hopefully someday can stop saying ‘you’ll never have children in a so-called natural way.'”

Is it possible to map the genes that prevent women with Turner Syndrome from becoming mothers - and men with Klinefelter Syndrome from having children of their own? And can we utilize that knowledge for use in other contexts? These are important questions for clinical professor Claus Højbjerg Gravholt, born 1962, who is a researcher in the field of sex chromosome abnormalities.

Claus Højbjerg Gravholt currently investigates the possibility of finding living sperm in testicles, donated by 14 hopeful Klinefelter men, who have nothing to lose since the sex chromosome disease renders them infertile. Another research project examines the ovaries, removed from women who suffer from another sex chromosome disease, Turner Syndrome, in the hope to find follicles – possible viable eggs. Both projects also aims to uncover the causes of infertility in both conditions.

What if they were model system diseases?

“Turner and Klinefelter Syndrome are rare chromosome defects, but common reasons for not producing estrogen and testosterone. An important goal, of course, is to help the patients I meet in the clinic, so that we hopefully someday can stop saying ‘you’ll never have children in a so-called natural way’", Claus Højbjerg Gravholt says.

“I see Turner Syndrome and Klinefelter Syndrome as model system diseases and hypothesize that if I can find out which genes are involved in these disease processes, the knowledge will be transferable to many other areas," he adds when summarizing the big dream.