Kallmann syndrome
BMJ 2012; 345 doi: https://doi.org/10.1136/bmj.e6971 (Published 03 December 2012) Cite this as: BMJ 2012;345:e6971
- Neil Smith, patient 1,
- Richard Quinton, consultant and senior lecturer in endocrinology2
- 1Worcester, UK
- 2Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK
- Correspondence to: R Quinton Richard.quinton{at}ncl.nhs.uk
- Accepted 23 June 2012
My early childhood was fairly uneventful medically apart from 70% hearing loss in one ear and no sense of smell. I reached what I now know to be the normal pre-puberty Tanner stages, and up to the age of 12 years nothing seemed to be amiss. Going through my early teenage years it was a case of waking up each day and hoping something was going to start to develop. I knew it was getting late to start puberty, but I assumed it would all start soon enough. Eventually I was the only one in my year group not to show any development, and this was certainly noticed by the rest of the year group.
A routine health inspection by the school nurse as part of the health screen for a permit to work on a newspaper delivery round led to a referral to a general practitioner at the age of 15 years. At that stage the GP said I was just late starting, that I should wait and see, and I was sent on my way.
Teenage years
Up to the age of 14, I was a normal enough schoolboy I think. I was in the Scouts and was involved in my local cricket club. I gradually got left out of social events as I lacked the confidence to go and had no sexual drive at all. I knew the basics from a purely physical point of view but had no libido or interest in any sort of teenage activities. I made up excuses not to go to social events, and eventually I stopped being invited.
By the age of 17, it was clear that nothing was starting so …