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How common is Kallmann syndrome / absent puberty ?

February 7, 2011

There is no doubt that Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH) are rare conditions.

It is certainly not the first thing that would come to mind if a person has not started puberty by the age of 16 and there are other conditions affecting the pituitary gland that have to be eliminated first before a diagnosis of KS or HH can be reached.

Just how rare is it though ?

There actually has been no reliable figures produced, but most KS specialists consider it to be under diagnosed. The best available figures come from a 1972 study which looked at 40,000 conscripts to the French Foreign legion, all aged 19 to 20.

If found 51 men with Klinefelter syndrome and 10 with HH, of wich 4 had no sense of smell which indicated KS.

This gives approximate figures in the male population of:

1 in 4,000 births for Hypogonadotrophic Hypogonadism

1 i 10,000 births for Kallmann syndrome

1 in 1,000 births for Klinefelter syndrome

There is some confidence in these figures for Kallmann syndrome and HH because the figure for Klinefelter syndrome is around the figure that is found at present. Due to its known genetic cause Klinefelter syndrome is a far easier condition to diagnose than Kallmann syndrome. They do share some common symptoms even though the root cause of the conditions are totally opposite.

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2 Comments
  1. Claire permalink

    Yes they said the bulb was completely missing on 1 side and had a relatively small one on the other side? Just now he is normal height but is very skinny although they said his weight was ok for his age .. He also has glue ear this is how this all started as I noticed he seemed to be saying what to everything. I don’t have a fb page but could you give me the yahoo one I could set an account up thank you.

    • https://groups.yahoo.com/neo/groups/kallmanns-syndrome/info

      That is the link to the Yahoo group. It can be a bit quiet at times but if you post a question somebody will hopefully help you. There are more people in the Facebook groups. However it is such a rare condition you might not find too many other mums to talk to.

      Getting diagnosed this early will be of huge benefit to your son. With the appropriate treatment he will develop just the same as another boy in his age group. There are fertility treatments available that would produce totally normal development at puberty but they are not always given to teenagers, but it is possible, depending on what hospital you are being seen at.

      They key thing will be to start treatment at 12 or 13, if he is the correct height.

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