US Kallmann syndrome meeting 2013. Notes taken. Part 3.

USA Patient Meeting 2013. Notes taken. Part 3.

Obtaining medications with health insurance.

There are companies that can provide basic testosterone medication free of charge without insurance in the USA as long as you have a valid prescription. There is a post in the Facebook groups listing these companies.

Gaining hCG and hMG medications on health insurance is possible but it is a time consuming and lengthy process. One key point is emphasise the point that the hCG / hMG medications are required for testosterone production only and not for fertility. Insurance companies are very unlikely to approve medication for fertility use. However in patients with KS / CHH the primary reason is testosterone production and osteoporosis prevention. If you leave a message in the Facebook groups somebody who has had a lot of experience in dealing with insurance companies will be able to help and advice you.

 

Genetics.

The understanding of the genetics of KS / CHH is changing all the time and it is difficult to give many clear cut answers.

So far over 20 different genes have been implicated in causing cases of KS / CHH.

With puberty being such a defining point in human development it is not surprising there are many different genes involved in its control. No one single gene is responsible for the initiation of puberty so a defect in one gene does not always mean puberty is delayed or is absent.

KS / CHH is primarily a two or more gene defect condition, which accounts for its rarity. One gene defect on its own might cause visible symptoms such as hearing loss, dental problems, cleft lip, and delayed puberty. However it is only when this gene defect is combined with another that you get a case of KS / CHH with the full range of symptoms. It is clear by looking at families with KS / CHH that the range and severity of symptoms is not consistent, even within siblings. This makes the prediction of inheritance and the genetic screening for KS / CHH very problematic.

Over 50% of KS / CHH cases still show an unknown genetic origin. You can screen blood for the currently known genes but any negative result just means it is negative for the genes discovered so far. Research centres in Boston & Augusta in the USA or in Switzerland will test blood samples for current gene defects and then store the samples for re-testing once new gene defects are discovered.

The only exception to this is the KAL-1 mutation on the x-chromosome. KAL-1 is termed a high penetrance gene. A mutation in the KAL-1 gene can cause a case of KS on its own with no other gene defect present. Any small defect in the KAL-1 gene gives rise to a high probability of having Kallmann syndrome. The KAL-1 mutation is the one associated with the additional symptoms of anosmia, mirror movements of the hands, absence of one kidney and hearing loss.

KAL-1 causes x-linked KS, so is only found in males (there is a theoretical chance of a female having x-linked KS but has never been proved yet). X-linked KS accounts for less than 10% of all KS / CHH cases but is the one that is most easily tested for.