Delay in the diagnosis of Kallmann syndrome or hypogonadotrophic hypogonadism can cause psychological problems later in life: A patient’s perspective.

Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH) are rare. The exact incidence is unknown but it is thought to be in the region of 1 in 4,000 male births and 1 in 20,000 female births. The major clinical symptom is the failure to start or the failure to fully complete puberty. A failure in gonadotrophin release by the pituitary results in secondary hypogonadism and the majority of cases, infertility. Unlike some other more common developmental conditions such as Klinefelter syndrome or Turner syndrome the exact genetic cause is unknown. While at least ten candidate genes have been implicated in cases of KS and HH still around 70% of cases have an unknown genetic cause.

There are some associated non-reproductive symptoms that can occur which can be noticed pre-puberty, most notably the anosmia / hyposmia seen in Kallmann syndrome or crypto-orchidism in males.
Since my diagnosis with KS at the age of 22 I have spoken to and met many other people with the same condition.

A common theme I have found is that many have found it difficult to get a diagnosis of KS / HH in their teens. A common story is that they have approached their GP at the age of 14 or 15 concerned that they have not commenced puberty only to be told that they are a “late developer” and that they should just wait and see. I think this failure to recognise the potential of a case of KS / HH can lead to psychological problems later in life. It is not uncommon for people to say to me that they have been put off from going back to their GP’s. This can create a long delay before the correct diagnosis is reached.

If at the age of 15 for males or 14 for females puberty has not begun there may be a good case of referral to a paediatric or reproductive endocrinologist for specialist review. Even if it is a case of straight forward constitutional delay this can quickly be distinguished from a case of KS / HH or a number of other pituitary related conditions.

The teenage years are not just a period of big physical changes but the emotional and social changes which occur are just as important. If somebody is not going through the normal physical changes they can easily become socially isolated from their peer group and they miss out on this crucial period of emotional and social development. Some of the people I speak to feel that these developmental teenage years are sometimes impossible to catch up on.

I think an early diagnosis is the key issue. The ability to put a name to the condition, know there are treatments available and the knowledge that they are not the only person in the world not going through puberty is an essential step to coming to terms with having KS / HH. I do not think that is a coincidence that the people I met who have less problems dealing with KS / HH are those who were diagnosed early and started treatment early.

People with KS / HH do not show the same range of symptoms, even within family groups. There is evidence to suggest that KS /HH exist as a broad range of conditions with delayed puberty or constitutional delay being at the very minor end of the spectrum. The earlier treatment with testosterone or gonadotrophins is started the more chance there is of the patient going through as normal a puberty as possible.

While a person with KS / HH will very rarely go through a totally normal puberty as there will be no testicular growth while on testosterone alone early treatment will allow for all the other physical symptoms seen at puberty and allow the patient to fit in more easily into their peer group. For a lot of people I speak to just getting a name to the condition goes a long way to help them come to terms with the condition.

On one level KS / HH is not a serious condition as it has no major issues of morbidity or reduced life expectancy associated with it as long the issue of early onset osteoporosis is monitored. For some people with KS it can be the deep psychological issues of poor self image and low self esteem that can be very difficult for some people to overcome, even those in long term relationships. From my own position as an informed patient I do feel that early diagnosis and early treatment can help alleviate some of these issues.

Neil Smith.
Worcester, UK.
neilsmith38@hotmail.com
www.kallmanns.org