A patient’s perspective:

“Long term psychological effects of delayed diagnosis of Hypogonadotrophic Hypogonadism in patients with delayed puberty”.

"Puberty is considered to be clinically delayed if sexual maturation has not become apparent by the age of 14 years in boys or age 13 years in girls."

"Using these criteria, approximately 2.5% of healthy adolescents will be identified as having pubertal delay"

Delayed Puberty. Rosen, DS, Foster C. Pediatrics in Review 2001;22;309

http://wp.me/p1juXy-34

Recent figures produced by Pof. Nelly Pitteloud from the University of Lausanne in Switzerland.

11 different gene defects now known to cause KS / HH but with still 68% of cases still with unknown genetic cause.

The condition is often caused by 2 different gene defects working in combination.

The lab in Switzerland is one of the world's leading centres of research into KS & HH.

There is a Kallmann syndrome patient meeting planned for London on the 12th November 2011.

The meeting will be held at the Royal Free Hospital in North London.

The speakers will be:
Prof. Pierre Bouloux, Royal Free Hospital, London
Prof. Nelly Pitteloud, Lausanne, Switzerland.

The meeting should run from 11am to around 5:30pm

The meeting is fairly informal with a few short medical presentations, question & answer sessions and with plenty of time to talk to other KS patients.

There are two pages on Facebook where people can talk to other people with Kallmann syndrome or HH.

You can post comments or questions and read any replies other people have made. There is also a chat function there for people to talk to each other.

There is one group called "Kallmann syndromers" which is open to everybody and any posts will appear on your home page so other people might see the posts you make there and know you are a member of the group.

A review article on Kallmann syndrome.

This may be only of interest to those people with KS or HH but this article from Clinical Endocrinology 2010; 72(6) gives a very good overview of the diagnosis & treatment of the condition.

It is authored by Prof. Pierre Bouloux at the Royal Free hospital in London, who is my specialist and one of the first doctors to diagnose me when I worked there back in the 1990's.

A blog site on Word Press with some articles on Kallmann syndrome and Hypogonadotrophic Hypogonadism.

http://kallmannsyndrome.wordpress.com/

The genetics of Kallmann syndrome and other forms of HH is a long way from being fully understood.

In a paper published in by the Proceedings of the National Academy of Sciences of the United States of America (PNAS) in 2010 a review listed 12 different genes that have been known, either in isolation or together that have been implicated in causing cases of KS or HH. Even with this number of genes involved over 60% of cases of KS and HH have an unknown genetic cause.

This is going to be a very personal blog entry and by its very nature it will be explicit in content in places.

I have spoken to a lot of people and met a lot of people with Kallmann syndrome (KS) and Hypogonadotrophic Hypogonadism and over time I have had some rather frank discussions.

Kallmann Syndrome is not an easy condition for people to understand. Families, partners and friends of people with KS or HH will hopefully help to be understanding, but it is almost impossible for them to know what it is like to have a condition which prevents you from not going through a fundamental stage of development.

Some thoughts on Kallmann syndrome (KS):

Diagnosis of KS is sometimes difficult and is normally a result of eliminating all other possibilities. However any boy aged 15 or girl aged 14 who have showed no signs of puberty starting should be sent to an endocrinologist for specialist review and not told to “wait & see” by a GP.