Re: Managing delayed or altered puberty in boys
I am the patient and co-author of the associated Patient Journey article on Kallmann syndrome.
I would like to echo Professor Pitteloud’s comments in her article.
I have met and been in contact with a significant number of fellow Kallmann syndrome (KS) patients in the years since my diagnosis. One constant comment that emerges from my discussions with other patients is the benefits of early diagnosis and treatment.
It can take a lot of courage for teenagers (both men and women in the case of KS) to go to their doctor with concerns on delayed puberty only to get classed as “late bloomers” or “late developers” even at the ages 16 or 17. This can have a severe adverse psychological effect if it later transpires that they are not delayed, but have KS.
From my many conversations with fellow patients it is clear there is a significant advantage in gaining an early diagnosis so that their physical and mental development can keep pace with their peer group. Many patients talk about feeling “left behind” both emotionally and physically. The knowledge that they have a named condition and that they are not the only person in the world not going through puberty can have a major positive impact on their lives.
I wrote the article on my journey with KS in the hope that it can highlight this rare condition to GP’s and primary care doctors. I think many of my fellow patients, like myself, would have benefited from a more prompt endocrine review of our condition rather than waiting until our late teens, early 20’s or even beyond to get the correct diagnosis and treatment and to convince our doctors that we were not “late bloomers”.