Hello

I have just found this site, there used to be another forum but this folded some years ago.

My mum, brother and myself all have KS in varying degrees i.e my mum and brother have no sense of smell, but I do. We all failed to go through puberty but my mum had a course of hormone treatment and she then went on to ovulate 2 or 3 times a year, the consequences being my brother and I, although there is 14 years between us. My brother has no sense of smell had to have treatment for puberty and operations to descend his testes. I do have a sense of smell but had to have hormone treatment to start puberty and fertility treatment to have my daughter.

A couple of years ago we all gave a blood sample to a consultant endocrinologist and it was discovered by research carried out at Harvard University (I live in the UK) that we has a mutation on the gene FGFR1. My daughter is now 8 years old and they have discovered she also has the mutation but I have a couple of years to wait to see how this displays itself, fear not she will not be left until she is 16 by doctors telling my she's a late starter.

My advice is get your GP involved, refer them to this site, get referred to a good Endocrinologist refer them to this site if they do not know about the condition.

I was tormented and bullied at school I had relationship problems through having KS. But now I'm in a good marriage, I have a good job and I'm very happy with my lot.

So keep going and be positive, happy to chat to anyone.

Lynne