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Delayed puberty v Kallmann syndrome

January 24, 2011

Kallmann syndrome (and other forms of hypogonadotrophic hypogonadism) are not easy conditions to diagnose for a number of reasons.

1. It is not widely known about in the medical profession, especially by primary care physicians and GP’s. This leads to people with KS or HH being dismissed as “late developers” at the age of 16 if puberty has not started by then. The constant dismissal of people with this tag “late developer” gets to be very annoying after a while and being told to wait and see well into their late teens.

2. While KS / HH are genetic disorders there is no one genetic test that can detect them. While some gene defects are known to caused KS and some of these can be tested for the majority of KS cases still have an unknown genetic cause.

3. Diagnosis normally only occurs by eliminating other more common conditions.

4. It is difficult, but not impossible, to diagnose KS or HH before the age puberty is due. Still the majority of people are not diagnosed until their late teens or early 20’s when puberty still has not started.

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