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Rare Diseases Day.

February 9, 2014

A disorder is considered “rare” if it affects less than on 1 in 2,000 people. KS / CHH is most certainly a rare condition. There are around 4,000 medical conditions that can be considered rare, which equates to about 8% of the population.

I posted a quick story on their web page which has been published:

http://www.rarediseaseday.org/stories/45

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2 Comments
  1. Claire permalink

    Hi my son has just been diagnosed with this although not 100% because he is 8!! But he has no sense of smell and MRI scans showed no nerve endings at front of brain .. Any info is greatly appreciated thanks

    • Hello, thank you for your post.

      When you say your son had the MRI do you remember if they said they were looking for the “olfactory bulb”. This is the structure inside the brain that allows for the sense of smell. If it is missing then a diagnosis of KS is possible, but not certain.

      There is not much else you can do until the age puberty is due. In some cases doctors might start low dose testosterone treatment at 12 or 13, depending on how tall your son is at that age. The dose will be slowly increased to adult levels. If he does not have KS, puberty will start as normal and all will progress normally.

      If he has KS the testosterone will produce nearly all the changes seen at puberty, apart from testicle development, he will grow at the same rate as his peer group and it will not be readily apparent to anybody anything is different.

      I am sure this has been done already but ensure the testes are inside the scrotum. It is not uncommon for boys with KS to have one or both testes un-descended.

      The key thing is regular check ups with the endocrinologist to check he is growing at the right rate and to ensure treatment is started at the correct age if required.

      We do have other mums in our Facebook and Yahoo groups if you want to talk to other mums with young children with possible KS.

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