A personal story from a Kallmann syndrome patient in the UK:


I was born on the 18th January 1978, along with my sister, one of twins 11 weeks early. We were kept on the special care baby ward for three months until we were big enough to be allowed home. However I still needed to gain some weight, as I needed surgery to correct my harelip. I gained the weight quite quickly thanks to my uncles who insisted on feeding me more than required. I had the corrective surgery and was allowed home.

About a year later I was diagnosed as having epilepsy and deafness I have around 75% hearing in my right ear and around 10-15% in my left. At 2 years old I had a fit that was severe enough to stop both my heart and my lungs completely. Luckily I survived anyway the severity of the fit was enough that I was put onto phenobarbital and phenytoin.

I stayed on these drugs until my early teens when the doctors thought it best to wean me off them. The side effects were pretty drastic, some days I would forget who I was and where I lived and on occasion would have the whole street out looking for me. There even a few incidents of violent outbursts on my behalf, which anyone who knows me would agree that, that is about as far away from me as you can get. Anyway this landed me in the offices of a child psychologist, who as I was only 10 years old, did not give me enough credit to think I didn't know I was being observed through that big two way mirror. They could not find anything psychologically wrong with me nor could they explain my outbursts of violent behaviour. I would say it was probably due to the large dosage of barbiturates being thrown down my neck, but what would I know.

Anyway as I started approaching my teens I was noticing that I wasn't changing like the rest of my friends my age this puzzled me and I remember being taken to the doctors by my mum who was told "oh he's just a late developer". Secondary school was a nightmare as I was constantly bullied because the other lads my age knew I was different. I used to forget my PE kit on purpose in an attempt to not have to change or shower with the rest of the lads. However there would be the odd time where a spare kit my size would be found and I would be forced to participate. Detentions were common for me as forgetting your kit was a punishable offence

I didn't really mind as it meant less bullying in one respect but my schoolwork did suffer. Meanwhile the doctors were just fobbing mum off with the same excuse. So I left school and went to the local agricultural college where I did my animal care and veterinary nursing diploma. I went on to do a further two animal care related courses. All this time and still puberty was determined not to show. I put this to the back of my mind and just carried on with life I became quite depressed.

As time went on I turned to drink and one night during a heart to heart with a close friend's mum I told her. The very next day she marched me off to the doctors determined to sort it out. My GP, admittedly out of his depth referred me to the endocrinologist at our local hospital he put me onto the testosterone injections. He did not tell me why or even perform any other tests apart from x-raying my wrists. I figured best not to question his ways of doing things he must know what he's doing. It was only when my twin sister saw the same doctor and he told he that she could not have kids and that she was too young to be trying anyway that alarm bells started ringing (we were twenty at that point) so a friend of mine started doing a bit of research.


We came across the HYPOHH site online so I rang Mark Saunders spoke to him, wow what an awesome relief. He advised me to get a second opinion ASAP so when I went to the HYPOHH conference in Birmingham of that year I did just that. I went up at the Bristol Royal Infirmary. They explained everything and they were great. I had several MRI scans and ultrasound scans. It was discovered that I had un-descended testes so an operation was arranged to have them removed. I had a prosthesis put in place I figured life would now take on some form of normality.

My care was handed over to my GP. However the prosthesis did not fall into its correct place and caused me a great deal of pain for two years. I tried all sorts of drugs and even acupuncture. In the end I decided the best thing to do was to have them removed. It was around this time that I discovered the Yahoo group and I discovered that in fact everything was not as it should be, again I had been grossly mistreated.

So I eventually plucked up the courage to change my GP and demanded a referral back to an endocrinologist (a different one this time). I saw him last month and the appointment went better than I ever could have imagined. I finally found a doctor that listens to me and takes my point of view. I never thought I would find one. Everything is now under control and for the first time in my life. I am looking forward to the future and it's all thanks to this group, the HYPOHH site and a few good friends.

I wanted to write this for two reasons

1) To thank everyone for there help and support and prompting

2) To make anyone stuck in a similar predicament see there is a light at the end of the tunnel.

Help is available all you need do is ask


Many thanks Paul C.

Kallmann Syndrome is a rare enough condition without having trouble finding information on the internet because of spelling...

The German / American scientist who published the landmark paper on this syndrome in 1944 was Franz Kallmann.

The correct notation is now Kallmann Syndrome, rather than Kallmann's Syndrome. It was recently agreed that all the personal notation associated with disease names would be dropped, so for instance Down's syndrome is now Down syndrome and Klinefelter's is now Klinefelter syndrome.

The first medical paper to use the name Kallmann syndrome was published in 1944 in the unfortunately titled magazine "American Journal of Mental Deficiency".

It was first thought that Kallmann Syndrome was linked to a marked level of mental incompetence. This is NOT the case.

The fact that the few people in the first paper had Kallmann syndrome and mental problems was a coincidence and not a direct result of having Kallmann syndrome.

There is no link between intelligence, mental awareness and having Kallmann syndrome.

Kallmann Syndrome and the closely related hypogonadotrophic hypogonadism are genetic conditions.

However unlike a lot of other genetic conditions its route cause is still not fully understood.

At present there are 4 different genes that are known to cause this condition, and there may well be more out there. It has been estimated that these 4 genes only account for about 30% of all cases.

The lack of complete understanding of the genetic cause of Kallmann Syndrome prevents an effective, reliable screening test from being developed.

If any person with Kallmann Syndrome is going through fertility treatment they should be aware that there is a chance of passing the condition on but it is impossible to give an assessment of the risk.