One aspect of Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH) that sets it apart from other more common genetic disorders is the absence of a common gene defect for all cases. There are at least ten genes already identified that are implicated in cases of KS and HH. This sometimes leads to the view that the genetics of KS and HH has little bearing on individual patients and has no relevance to their treatment.

From my own experience with KS and talking to other people with KS or HH my own opinion is that there is an advantage to knowing the genetic cause behind the condition. There is an almost cathartic experience in being able to pin point the cause of the condition rather than the more common experience of being told “it just happens”. The participation in genetic studies also increases the chances of finding the elusive common gene defect that links all the cases which in turn might lead to an early diagnostic screen in the future.

While participation in genetic studies may have no impact on current treatment I always encourage fellow patients to take part in the hope that they can find a reason for their own condition and possibly help future generations of patients.

If people want to participate in genetic studies there are two centres who would be happy ot accept blood samples at any time. If you sample is tested they will send you the results but it might take a while for them to be tested.

One centre is in Newcastle, UK the other is in Boston, USA. If anybody needs further details I will provide them.