When a “late bloomer” does not bloom
I did not start puberty on time and was labelled as a “late bloomer”.
By the age of 15, I still had not started puberty.
An examination by a school nurse resulted in a trip to the local doctor. He just said I was a “late bloomer” and I should just “wait and see”
No blood tests, no other physical examination.
At the age of 18 I saw two hospital consultants, a urologist and a general medicine consultant but the answer came back the same.
No doctor I spoke to picked up on the fact I also had poor hearing and no sense of smell.
I did not know it at the time but both these symptoms were linked to my lack of puberty.
I went to University to study biomedical sciences. I still had not started puberty.
I started work in the my first real job as a Biomedical Scientist at the Royal Free Hospital in London. A chance lunch time meeting with an endocrinologist (Dr Richard Quinton) working there changed everything.
After I first described my symptoms, he asked if I had a sense of smell. That one question led to my diagnosis of Kallmann syndrome.
I have been on testosterone therapy every since. I have to be on some form of hormone replacement. I still did not go through normal puberty but at least got most of the physical changes that should have happened. I would have to take a different form of treatment should I wish to be fertile.
Diagnosis of delayed puberty. - not always a case of “wait and see”.
Some points that were mentioned at the talks I went to at the conference on delayed puberty and Kallmann syndrome / CHH.
About 80% of males who have delayed puberty at the age of 14 will progress to normal puberty with no treatment or a short course of treatment.
30 - 55% of females who have delayed puberty at the age of 13 will progress to normal puberty.
Treatment is not normally required before the age of 13, however treatment need not be with held until a full diagnosis is obtained. Better outcomes both physically and emotionally can be obtained with earlier treatment.
Commencement of puberty (past Tanner stage 2) does not always mean puberty will complete fully in cases other than standard self limiting delayed puberty.
In females treatment with oestrogen only is suggested until maximum uterine growth is obtained (shown by 2 consecutive ultrasound scans). Progesterone should only be added later.
In males with Kallmann syndrome / CHH whose testicle volume is low (2 ml by ultrasound) should not be given hCG on its own when a teenager or young adult as this can reduce the chances of fertility treatment working later in life.
Treatment with testosterone only at any age has no effect (positive or negative) on future fertility chances.
Early use of gonadotropin therapy / fertility treatment in teenagers does not increase the chances of fertility chances working later in life but can reduce the time required to achieve sperm production.
The Kisspeptin challenge test could be a good diagnostic test to distinguish between self limiting delayed puberty and Kallmann syndrome / CHH. It is still only available as a research test but it is hoped that it will be available more widely at some stage.
Inhibin-B is a hormone that is released early in puberty and can be detected during childhood before the age puberty is due. While not always available in all hospital labs, measuring Inhibin-B levels could indicate puberty is starting years before any physical signs can be seen.