I am planning another meeting for KS / HH patients this year.

It will be held at the Royal Free Hospital, Hampstead, London on Saturday 15th May.

Professor Pierre Bouloux and Dr Richard Quinton will be two of the speakers and I am in the process of trying to find one more.

I am in the process of applying for a grant from the Endocrinology Society to help fund the event. There may have to be a small charge to cover costs if I can't obtain full funding.

Delay in the diagnosis of Kallmann syndrome or hypogonadotrophic hypogonadism can cause psychological problems later in life: A patient’s perspective.

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.

The use of the Nebdio injection is becoming more widespread in the UK and the rest of Europe.

It is still not available at present in the USA and the last reports suggest that the FDA are very reluctant to allow the product to be be licenced.

The injection is designed to be taken every 10 to 12 weeks, after the initial doses 6 weeks apart. Some specialists in the UK have found that adequate testosterone levels can be achieved with even longer periods between injections, sometimes upto 26 weeks apart.

Kallmann syndrome – A personal view.

Just a few personal points on my experiences with Kallmann syndrome:

One of the factors that puts Kallmann syndrome apart from a lot of other conditions is its rarity. Kallmann syndrome is not very widely known in the medical community let alone in the general population.

The total lack of the sense of smell (anosmia) or a strongly reduced sense of smell (hyposmia) is a classic, defining symptom of Kallmann syndrome.

Just why the sense of smell is linked to a failure to start or fully complete puberty is dealt with in more detail elsewhere on this site. It is just coincidental that the area of the brain that controls the start of puberty and the sense of smell are located almost in the same place and a very small defect during the development of the brain prevents this area forming correctly.

Testosterone – Basic Introduction.

For males with Kallmann syndrome a major symptom is hypogonadism or a deficiency in the production of the hormone testosterone.

Primary hypogonadism can occur at any age in males as a result of a number of different factors including age, infection or physical damage. In primary hypogonadism the testes were functional at one stage but cease to function correctly at some point during life.

http://www.youtube.com/watch?v=NdugznakBGo

Here is a link to a You Tube video I created. I was considering making a series of these with small segments of information on KS and HH. Hopefully I can get to interviews with KS specialists as well which might be interesting.

Any feedback on this, positive or negative, would be appreciated.

Neil Smith.
August 2009.

The BBC documentary department is planning to produce a documentary on Kallmann syndrome.

While still at the idea stage they are after any input from any interested people with KS or HH who wishes to take part in person or just provide ideas for background information or content.

A previous documentary did not fully explore a lot of the aspects of having KS. In an attempt to avoid the same thing happening again they are keen to hear from as many people as possible to get a good general idea.

I have already mentioned any potential programme has to be more