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Review article on Kallmann syndrome

April 14, 2011

A review article on Kallmann syndrome.

This may be only of interest to those people with KS or HH but this article from Clinical Endocrinology 2010; 72(6) gives a very good overview of the diagnosis & treatment of the condition.

It is authored by Prof. Pierre Bouloux at the Royal Free hospital in London, who is my specialist and one of the first doctors to diagnose me when I worked there back in the 1990’s.

By the time I left university I still was not diagnosed correctly, still labelled a “late developer” which at 21 seemed more than a bit annoying. It was only by chance that my first job after university was in the blood transfusion lab at the Royal Free Hospital in London. Prof. Bouloux and his senior registrar at the time, Dr Richard Quinton (now consultant in Newcastle) were both working at the Royal Free and specialised in treating people with KS / HH.

The fact I managed to start work at the very hospital that contained the two specialists who could diagnose me correctly was certainly a strange coincidence. The first question Dr Quinton asked me was “can I smell “. Such a simple question at the time, but none of my previous specialists or GP’s had ever asked it before.

 It was the first time a name was put to the condition, and a couple of months later I met somebody else with the condition for the very first time. It is difficult to put into words to people who don’t have the condition the sense of relief knowing that it is a recoginsed condition, it has a name you can put to it and there are other people out there with the same condition.

  1. Alex W. permalink

    “Can you smell” is not necessarily a question I would expect a doctor to ask, simply because KS is so very rare. That said, HH in general is far more common so any doctor worth his salt should have picked up on that and begun treatment even without the correct diagnosis.

    • That is a very good point Alex.

      A lack of sense of smell is unique to Kallmann syndrome only, which covers perhaps only a half of hypogonadotrophic hypogonadism cases.

      In my own case none of the GP’s or specialists I had seen before working at the Royal Free had even considered KS as a possibillity. I was still being labelled as a “late developer” at 21.

      It is a good red flag for GP’s though. Presented with a boy of 15 or 16 with no siginificant pubertal development and no sense of smell, KS should be considered as a possible diagnosis and referral to an endocrinologist for review.

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