The following quote was posted as a Facebook status by a colleague of mine with type I diabetes:-

“Dear diabetes, since entering my life in a rather forcible manner fifteen years ago, you have since been a most unwelcome guest who out stayed their welcome the minute they arrive. Now kindly do the decent thing and fuck off out of my life. I don't want to be defined by you anymore.”

This quote struck a chord with me. I don’t have diabetes, I have another endocrine condition called Kallmann syndrome. The above quote could quite as easily be attributed to Kallmann syndrome as it can diabetes type I.

Kallmann syndrome is a rare hormonal condition in which the major symptom is the failure for the patient to enter puberty or to fully complete puberty. Untreated patients would have very poorly developed secondary sexual characteristics and will almost invariably be infertile. It is also associated with a lack of sense of smell. The root cause is the failure of the release of the gonadotrophin hormones (LH and FSH) by the pituitary gland.

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Diabetes is fairly straightforward to diagnose, even if doctors sometimes get Type I and Type II mixed up.

KS is harder to diagnose as it is normally a case of eliminating all other possibilities first. The biggest hurdle is getting a diagnosis when as a teenager you are constantly being dismissed as a “late developer”. There is no simple blood test for KS. It is not a widely known condition and diagnosis is often delayed well into late teens & early 20’s by which time the benefits of early treatment and diagnosis are lost.

Diabetes is far more intensive to treat, can be a major struggle getting blood sugar levels correct and can have serious complications, both short term and long term if you do not get the treatment right.

KS is fairly straightforward to treat in comparison; a lot of people with KS get a testosterone injection every three months and this is all they need. It gets a little more complicated if fertility is required, but compared to diabetes the treatment of KS is very simple. Testosterone, while an important hormone to have is not in the same league as insulin when it comes to its importance for day to day life.

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In both conditions you are treating the symptoms rather than the root cause. You never cure either condition; you can only hope to control its effects.

In both conditions you are often left feeling tired & lethargic, either due to fluctuating blood sugar levels or very low testosterone levels.

In both conditions you sometimes have to deal with some medical professionals who have little idea or understanding of the condition. Knowing that Type I diabetics are not the same as Type II’s and have different needs & requirements would be a good start. It is the same for people with KS as most of us are seen by doctors who have not even heard of the condition and don’t know the full range of available treatments that are available.

In both conditions you are stuck with a condition you have little control over. You can’t really escape either condition and it is only really a fellow patient who can totally understand the problems you go through.

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Just how much each condition defines our life is a debatable point; I think it varies from person to person. I think it is impossible to live with a condition such as KS or diabetes type I and not let it affect your life. However by talking to patients with other endocrine conditions sometimes you can get a better perspective on your own condition.

In my conversations with my colleague I think we can both safely say neither of us would want to swap conditions.

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 means that there is no clear genetic test for KS or HH. Even if the you test for the two or three most common gene defects a negative result would not rule out a possible case of KS or HH.

PNAS 2010 Aug 107(34) 15140-4, Fig. 1

While Kallmann syndrome and HH cause a failure to enter puberty the root cause is located deep within the brain, specifically the communication between the pituitary and hypothalamus glands. It is a failure of the communication between these two glands that prevent the correct hormones being released by the pituitary gland which normally allow the development and correct function of the secondary sexual organs (testes / ovaries).

All the genes implicated so far in cases of KS / HH have some sort of role in the development of the communication pathways between the pituitary and hypothalamus. The pituitary and hypothalamus glands control many functions around the body. KS and HH are very specific conditions where only the sex hormone production side of their function is normally affected, leaving all the other functions intact. This is partly the reason why it is very a very difficult condition to detect early.

Apart from the lack of sense of smell, which is not unique, there is normally nothing to suggest a person has the condition until puberty fails to start. This makes diagnosis quite difficult sometimes, especially if doctors are not familiar with the condition. It is not unknown for some people with KS or HH to "know" they have a problem when young, but find it impossible to prove it or to persuade doctors to take them seriously.

Without a reliable genetic test too many people with KS or HH will be told they are "late bloomers" or "late starters" well into their late teens and are prevented from getting an early diagnosis or treatment.