Delayed puberty clinical trials at NIH, Maryland, USA.
There is a specialist pubertal development clinic run at the National Institutes for Health in Bethesda, Maryland, USA.
https://clinicaltrials.gov/ct2/show/NCT00494169
They have an on-going research programme designed for KS / CHH patients. It is a 3 or 4 day clinic where they run a series of diagnostic tests and give information on treatment. They work closely with the clinic at MGH in Boston. They will also undertake the genetic testing as well. They mainly see younger patients who are in the process of being diagnosed but are happy to hear from any patient.
The clinic is free to attend and they normally can help with travel costs from within the US. They have seen patients from overseas as well. I know at least one person from the UK who visited there last year. It can be a good way of getting more information about the condition and talk to experience KS clinicians.
They can give advice on fertility and hormonal replacement treatments and hopefully be able to put you in contact with KS specialists in your area.
The clinic is run by Dr Angela Delaney.
To contact them for more information e-mail Alessandro Albano on:
alessandro.albano@nih.gov
How is not going through puberty linked to not having a sense of smell ?
I was diagnosed at the age of 23 with Kallmann syndrome. Up to that point I was always dismissed as a “late starter” or “late bloomer” when I asked why I has not started puberty yet.
When I saw the endocrinologist at the Royal Free Hospital in London UK, one of the first questions he asked was “could I smell”. He was the first doctor ever to ask me this question. I knew I could not smell but can not remember ever thinking about it much and never for a moment linking it to my lack of puberty. In all my previous appointments with doctors I never bothered to mention it either.
So what does link not being able to smell and not starting puberty ?
It is a fascinating story I think.
It all starts very early in the development of the foetus, between the 10th and 14th week of foetal development. The key is the movement of nerve cells or neurones. As the foetal brain develops there is a lot of movement as cells and tissues come together to form organs.
The sense of the smell comes from olfactory nerve cells and they have to form a structure called the olfactory bulb in order to work correctly and produce the sense of smell. Puberty and reproductive function relies on nerve cells that release a hormone called GnRH which should be located within the hypothalamus deep within the brain.
It so happens that during early development the olfactory nerves and GnRH releasing neurones originate in the same place and have to travel along the same pathway to their final destination; the olfactory bulb and the hypothalamus respectively.
In Kallmann syndrome the movement of these neurones is blocked, either because the pathway they are supposed to move through has not formed correctly or the proteins that are supposed to help them move are missing.
This means the olfactory nerves and GnRH releasing neurones are left stranded in their starting position. The olfactory nerves can not form the olfactory bulb so there is no sense of smell and the GnRH releasing neurones do no reach the hypothalamus so puberty and the reproductive cycle can not start.
The distances involved in this migration are so small, less than the width of a pin head, but the end result can be quite dramatic.
Evaluating patient educational material
Evaluating patient educational material
Dr Andrew Dwyer is a leading KS clinical researcher based at CHUV, in Lausanne Switzerland. He is very interested in promoting the need for patients of KS / CHH to have access to more information on their condition. This can help patients have better discussions with their health care providers and take a more active role in managing the condition.
A group of KS specialists across Europe, under the guidance of Dr Dwyer have produced a series of patient information sheets that give the basic information about Kallmann syndrome and CHH. Patient advocates were also involved in the design process to help ensure the information sheets provided the information that patients were likely to need.
They serve as a good introduction to the condition.
Here is a link to a short patient survey which will help Dr Dwyer devise more web based on line support in the future.
Rare Connect Webinar 2. Consensus guidelines on treatment and diagnosis.
Rare Connect Webinar 3. Patient information sheets.
KS video update
KS video. 26 year old from Australia who has married a fellow KS patient from America.
