Kallmann Syndrome – Absent Puberty: A Rare Patient Story

Written by Neil Smith

I was labelled as a “late bloomer” as a teenager. I did not start puberty at the same time as my friends. Even when I started Uni at 18, I was still labelled as a “late bloomer.”

I had seen GP’s and a general medicine consultant and urologist and they all said I should just wait and see.

I also have no sense of smell and poor hearing, but no doctor I met linked these symptoms to my lack of puberty.

After Uni, at the age of 23 I started my first job, as a biomedical scientist working in the blood transfusion lab at the Royal Free Hospital in London. I had a general idea that I should see a hormone specialist about my condition, but my local GP had not referred me yet.

So I found an endocrinologist myself. Using the internal directory, I found where the endocrinologists were in the hospital. I talked to a young specialist registrar called Dr. Richard Quinton. I explained I had not started puberty and he asked “Do you have a sense of smell?”

I do believe he was the first ever doctor to ask me that question.

As it happened I could not have chosen a better hospital to be working at. The consultant endocrinologist was Prof. Pierre Bouloux, who was a Kallmann syndrome specialist, and Dr. Quinton had done his MD thesis at Cambridge Uni on Kallmann syndrome.

It made such a change from being told that I was just a late bloomer to meet two medical specialists for my rare condition. Formal diagnosis and treatment soon followed, better still was the chance to meet a fellow patient with the condition who had started a support group.

Over time I have become a patient advocate for my condition. I am still in contact with both of the doctors that first diagnosed me as well as specialists in America and Europe. I have now met or talked to many patients around the world and arranged patient meetings.

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