Kallmann Syndrome Causes Absent Puberty

Kallmann syndrome is a rare genetic hormonal condition. Its primary symptom is a failure to start or fully complete puberty, it is also connected with a lack of sense of smell. Some patients will go through a partial puberty but most will have little or no development, with testicle size remaining at childhood size, no hair growth or other body changes normally seen at puberty.

My childhood was uneventful and nothing appeared to be wrong until the age puberty was due. It never started for me. Even at the age of 16 I still had no development and looked far younger than all my friends. I did see a couple of doctors who told me to “wait and see” or that I was a “late developer.” I went to Uni having still not started puberty. At this time I was on low dose testosterone treatments which were doing nothing for me it appeared and I had no diagnosis.

After Uni I started a job in the haematology department at the Royal Free Hospital in London. It was here I sought out one of the endocrinologists who might be able to help me. My GP would not refer me so I did it myself. The first question he asked was “can I smell?” It was the first time any doctor had asked that question.

By a remarkable coincidence the Royal Free had two endocrinologists who specialised in Kallmann syndrome. It was at the age of 23 I had my first correct diagnosis and was able to start more appropriate treatment. Shortly after I met a fellow patient with the same condition. This has led me to be very active in patient groups, helping people get diagnosed and keeping them up to date with treatments. In addition with the condition being so rare it does help to have other patients to talk to as normally it is so isolating.

Diagnosis is made by testing hormone levels, primarily testosterone, FSH, LH and prolactin. A MRI can be performed to search for any problems with the pituitary gland and to check for the presence of the olfactory bulb which controls the sense of smell.

Genetic testing is available but is very limited as there is no unique gene involved. So far over 20 different gene / alleles have be identified that are known to cause Kallmann syndrome and these barely cover 50% of cases. Unless there is a strong family history diagnosis is often made by excluding all other conditions first.

The condition affects men more than women but it is not clear why this is the case, it could be just a bias in the diagnosis of the condition.

I have undergone 4 clinical trials in the past for testosterone treatments and fertility treatments. I am currently on a clinical trial for fertility. Without treatment men and women will be infertile. The treatments available can be expensive, and for the men can take a long time to work.

As long as I am on some form of testosterone treatment the condition does not impact me much physically during the day as I am otherwise healthy. Without the treatment I would be at risk of osteoporosis and a number of other conditions linked to low testosterone. The problems are more psychological, having to deal with the impact of not developing correctly in a very personal way, not looking the same as “normal” people which can have a major impact in a patients ability to have relationships, both physical and emotional.

Early diagnosis and treatment is essential for this condition and the ability for patients to talk to other patients helps them cope with this condition which is normally very difficult to talk about or admit to having.