Kallmann Syndrome

Kallmann syndrome / CHH is a rare hormonal condition that affects puberty. Patients do not start or fully complete puberty.

There are a number of other physical symptoms that are associated with the condition, most notably perhaps, a lack of sense of smell (anosmia) which is the defining symptom of Kallmann syndrome but not found in CHH.

Aside from the physical problems that may arise from having hypogonadism it is the psychological problems that patients face which are often overlooked.

Not having a normal puberty and adolesence, especially in those patients who are diagnosed late can lead to problems in forming emotional and physical relationships. It can be an embarrassing condition to talk about which does not help in social confidence.

Most patients are able to overcome the shyness or lack of confidence but it can take time. Being infertile is also a major problem for some. Even though fertility treatments are available they are not always easy to obtain.

#puberty #KallmannSyndrome #Infertility #Anosmia #latebloomer #psychology

Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism (HH). It affects puberty and fertility.

People with KS / HH do not undergo normal puberty and will normally be infertile.

Hormone replacement therapy can help with some of the physical symptoms and there is even specialist treatments available to help induce spells of fertility.

It is the pyschological aspects of the condition that concern me more at the moment. I talk to and meet many fellow patients and it is the perhaps the pyschological aspects that cause the most problems to fellow patients regardless of their age of diagnosis or treatment.

As with most rare disorders it is difficult to discribe to others what it is like to have the condition. Puberty and adolescence are such cornerstones in the development of the individual to miss out on them must leave lasting effects I think.

Having late puberty, being a "late bloomer" can be bad enough. However to be left behind totally is even worse. To be told to wait and see when you are a teenager as your friends develop physically and emotionally around you is not easy.

In my own situation I had a normal enough childhood, nothing seemed amiss, apart from my poor hearing and lack of sense of smell. At the time nobody linked this to my lack of puberty. If they had, I may have been diagnosed earlier than 23 years of age.

Socially i think I was a normal enough child but as a teenager I became more and more socially isolated. Through my own fault, I see now. I was invited to events with my teenage friends but as I grew older I felt more and more distanced from them. I began to turn down invitations because I felt so out of place. Eventually the invitations stopped totally.

Since I did not go through puberty, I felt physcially out of place as well as socially out of place. The doctors just said "wait and see", so I did. This was just before the internet age. I knew I was missing out on relationships and indeed even sexual relationships while a teenager or later at University. I just assumed it would all catch up eventually.

I concentrated on other things, I was not un happy as a young adult but perhaps I modified my personality and behaviour to make up for feeeling out of step of my age group. I did not learn the social skills or notice the signs of potential relationships. I developed my own traits to appear normal enough to function, trying to forget other things in life.

I was not diagnosed until I was 23 and it was not until I was about 25 that my hormone levels (testosterone) reached that of a normal male. What happened next is another story that i would be happy to share another time.

#kallmann #puberty #hypogonadism #BodyImage #Infertility #Sex

A common theme with rare disorders is the delay of diagnosis.

I was seen as being a "late bloomer" when I had not started puberty by the age of 16. Even though I had two of the extra symptoms, lack of sense of smell and poor hearing, I had to wait until I was 23 before I got the correct diagnosis and was put on testosterone treatment.

Late diagnosis and treatment can make such a different to fellow patients.

Even with treatment patients do not experience normal puberty and would require extra treatment if fertility is desired.

One issue patients can experience is that we are mixed up with "late puberty" patients. Some people assume that after treatment all is normal.

Delayed puberty patients can experience normal puberty after a short course of treatment and will experience normal puberty and be fertile. Patients with Kallmann syndrome (male and female) do not experience normal puberty, will need life long hormone treatment and require specialist hormone treatment if they wish to be fertile.

#testosterone #kallmann #puberty #Infertility #latebloomer

There is not too much I can say and I doubt I can put it into words properly.

This month I lost a fellow friend with Kallmann syndrome.

He took his own life. He was only 22 years old. He was younger than the age was when I was diagnosed. I spoke to him on line only a few days before and I noticed nothing untoward in the conversation.

I know he suffered from depression. I tried to help the best I could but we lived in different countries. He had family and friends around him who loved and cared for him deeply.

Having Kallmann syndrome, not going through a normal puberty and adolescence was not the whole reason for his depression perhaps but it was a significant contributing factor I think.

The psychological side of Kallmann syndrome, missing out on puberty, is often overlooked in patients I think. Sometimes it seems to be a case of once the hormone levels are restored to normal, then everything will be back to normal.

I try to raise awareness of our rare condition, but like other rare conditions it can be an uphill battle

One of my pet hates is the the internet meme "Do not confuse my medical degree with your Google / Internet search."

Thankfully I have never physically met a doctor who has tried this on me but I have heard stories from fellow patients where similar thoughts have been expressed.

Patient advocates can help fellow patients with internet searching to allow patients to ask their doctors informed and relevant questions at appointments.

With any rare condition it should be a two way process when doctor and patient can learn about the condition together.

The idea that "doctor knows best" is not always true.

#RareDisease #puberty #PatientAdvocates
#KallmannSyndrome  #testosterone

I have Kallmann syndrome. To anybody else, I look like any other regular person perhaps a few years older than my real age.

I was termed a "late bloomer" when in fact I never went through puberty at all. Hormone replacement therapy now has helped with some of the physical development and at least I look at bit older but I still am still underdeveloped physically and emotionally.

I am still infertile, though that could be corrected with specialist hormone replacement therapy.

I am shy, prefer my own company and find it very difficult to be around other people socially or at work. Nobody can see why I should be shy and quiet and it is really only fellow patients that can understand how I feel.

Missing out on both puberty and adolescence has left a big hole in my life that I have found impossible to fill.

#nopuberty #KallmannSyndrome #latebloomer #testosterone #MyCondition

Having a rare condition means you can sit opposite a health care professional and say to your self that you know far more about your own condition than the person opposite you.

Ideally, it should be a two-way process where you can both learn more about your condition as you share information you have found by talking to fellow patients.

The worst case scenario is to meet a doctor who does not take the time to listen and dismisses any outside information as total rubbish #KallmannSyndrome #PatientAdvocates

#SocialAnxiety #Isolation #KallmannSyndrome
I only feel totally relaxed when I am around fellow patients who share my rare condition, Kallmann syndrome.

I find it very difficult to be among people, shopping or just travelling about. I do prefer to be on my own and have my own space. I think the lack of physical and emotional development I have due to missing out on both puberty and adolescence still affects me to this day.