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Patient video on Kallmann syndrome.

Mark was founder of the HYPOHH support group in the 1990’s. Through his work with the group, website, patient meetings and information booklet he raised the awareness of the condition and helped many patients connect with other patients and gain more information on Kallmann syndrome.

Mark was the first person with Kallmann syndrome I ever met, shortly after I was diagnosed with the condition when I was 23.

The booklet is still available in PDF format if anybody wishes to have a copy. Even though it was written over 20 years ago it is still a valuable source of information and a good way of introducing the condition to friends and family.

Mark’s story.

This You Tube channel has a collection of videos on Kallmann syndrome / CHH. These are both patient videos and others relevant to Kallmann syndrome / CHH.

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Genetics of Kallmann syndrome / Congenital Hypogonadotropic Hypogonadism.

Mol Cell Endocrinol. Author manuscript; available in PMC 2012 Oct 22.

Published in final edited form as:
Mol Cell Endocrinol. 2011 Oct 22; 346(1-2): 102–109. Published online 2011 Jun 1. doi: 10.1016/j.mce.2011.05.041

Link to review paper on genetic testing in Kallmann syndrome / CHH. 

 

Two common questions that are asked by Kallmann syndrome or CHH patients are;

How did I inherit this condition ?

or

What are the chances of me passing on the condition to my offspring ?

Unlike some other genetic conditions unfortunately there is rarely an easy answer to either of these questions. This is mainly due to the fact that the genetic basis of Kallmann syndrome / CHH is still a mystery for the majority of cases.

The above diagram is taken from a review paper published in 2011. It lists eleven different genes which are known to be involved in cases of Kallmann syndrome / CHH. These are only the eleven best studied genes. The total number of genes that have been shown to have caused cases of Kallmann syndrome / CHH has now reached thirty.

Even if you took all these thirty genes, combined they would only account for about 50% of the cases of Kallmann syndrome / CHH, the rest have an unknown genetic, or idiopathic, cause.

The first discovered gene linked to Kallmann syndrome was the KAL-1 gene. This is the most widely studied gene and is fairly easy to test for. It causes a very specific form of Kallmann syndrome called x-linked Kallmann syndrome. This is the form that is inherited through the female line, with only males actually having the condition. As shown in the diagram above this gene only accounts for about 6% of Kallmann syndrome / CHH cases.

Genetic screening and testing can only test for a small number of these genes. In clinical testing normally only the 5 or 6 most common genes are screened for due to cost and time constraints. Even then this testing is only to see if a particular gene variant is there or not, it can not tell if there is a small error inside the gene. (An analogy would be that basic genetic testing can tell you if a particular book is in a library but it can not tell you if there are a couple of pages of information missing from that book).

Unless you know the exact gene or genes involved in an individual case of Kallmann syndrome it is very difficult to predict the outcome of a pregnancy. Normally genetic counsellors would need three generations of a family history to be able to identify the gene or genes involved and to give an idea of the chances of passing on the condition.

Without knowing the exact nature of the genetic origin of the disorder it is normally very difficult to tell how the condition was inherited, even if it was inherited.

Due to the nature of the genes already identified all the different forms of inheritance known are possible in Kallmann syndrome / CHH. The condition could have been pass down from either or both parents. It could also be caused by a new or novel mutation that occurred in the formation of the sperm or egg cells which therefore is not present in either parent.

National Institutes for Health guide on genetics.

You Tube Playlist for videos on Kallmann syndrome & CHH.

I have put together a playlist of videos from You Tube on Kallmann syndrome and CHH.

I have included videos I have made myself and others made by other patients. I will try to keep the list updated with any new videos I find.

You Tube Playlist

The Biggest Missing?

An Anosmic's Diary

If asked to name the smells we miss most, an anosmic Top 10 would be fairly predictable. It would include things like the aroma of freshly brewed coffee, or the cooking smells of food. Bacon in a frying pan was my nose’s favourite hors d’ouvre. Parents would likely bemoan an inability to smell their kids, especially babies. And those in relationships quickly become aware of losing something of their other halves. I soon realised how my partner’s body smell – a kind of odour genome – was so personal, intimate and ultimately, reassuring.

Yet as the years pass, I am increasingly conscious of what is arguably the Biggest Missing of all – experiential loss. Beyond what we try to make of our lives, a great deal of what we call fulfilment is characterised by our experiences of the world around us. The role of smell, while subtle, is often central…

View original post 266 more words

US Kallmann syndrome patient meeting 2017.

We are planning to hold a patient meeting for Kallmann syndrome patients in Boston on Saturday 21st October 2017.

The meeting will be held at the Reproductive Endocrine Unit at Massachusetts General Hospital in Boston.

The meeting will be hosted by Dr Andrew Dwyer and will include clinicians from the Reproductive Endocrine Unit.

The meeting will be a good chance to meet fellow patients in a friendly, relaxed environment and a chance to talk to experienced clinical experts.

The final programme for the meeting is yet to be announced, full details will be announced later.

 

 

Video

Kallmann syndrome video.

This video was posted on You Tube by a Kallmann syndrome. He has written a book “Baggage Claim” about his life and experiences living with Kallmann syndrome.

The video also contains a short clip of the jazz singer Jimmy Scott who had Kallmann syndrome.

I can certainly relate to the point that late diagnosis of the condition can affect not just your physical development but emotional development as well. It is not always easy to catch up on those important developmental years you are supposed to have as a teenager and young adult.

 

I still hate the term “late bloomer”….

Even at the ripe old age of 46 I still hate the term “late bloomer”.

I was stuck with this tag as a teenager. I had to watch my friends and class mates develop into young adults while I was being left behind both physically and emotionally.

Up to the age of 13 I was a fairly normal boy I thought. Not very good at sports, reasonably ok academically, did all the usual things kids did at that age.

Then it all changed, slowly at first, but it did become increasingly apparent I was being left behind. Part of this was my fault as I did not feel the same as everybody else as I had not started puberty. I was invited to the normal teenage parties at first but I kept making excuses about not wanting to go as I felt so much different than everybody else. Eventually the invites stopped coming. I was being left behind both physically and emotionally.

At first I thought, fair enough we all start at different ages, but once you got to 17 or 18 and still had not started puberty it was obvious something was not quite right. I was sent to the doctor by the school nurse but the doctor just dismissed me as a “late bloomer” and told to wait and see.

Even as a 19 year old at University I was being told I was still a “late bloomer”

It was not until I started my first real job after University at the Royal Free Hospital in London that I eventually found out what was wrong with me.

I went to see one of the endocrinologists there. I did not have an appointment, I just went to his office. The first question he asked was “did I have a sense of smell”.

23 years of age and no doctor had ever asked that question before. I said I had never been able to smell. This lead to the diagnosis of Kallmann syndrome.

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