Diagnosis of Kallmann syndrome or CHH.


Kallmann syndrome and CHH can cause a range of symptoms of differing severity so it is not always easy to diagnose the condition. 

There is no one single blood or genetic test that can confirm a case of Kallmann syndrome or CHH. Often doctors will have to run a series of tests to eliminate other conditions before being able to confirm the diagnosis.

The failure to start puberty by the age of 15 for girls and 16 for boys could give an indication the condition is present.

The start of puberty of is normally marked physically with the first menstrual bleed in girls or testicular development in boys.

Even at the age of 16 or 17 it is still important for the doctor to be able to distinguish between a case of puberty starting late or a true case of Kallmann syndrome or CHH. 

Often the term "late developer" or "late bloomer" is used by doctors. This can delay the correct diagnosis and treatment of people with Kallmann syndrome and CHH. Referral to an endocrinologist, especially a reproductive endocrinologist should be considered, especially if some of the other associated symptoms are present.