Kallmann syndrome (and other forms of hypogonadotrophic hypogonadism) are not easy conditions to diagnose for a number of reasons.
1. It is not widely known about in the medical profession, especially by primary care physicians and GP's. This leads to people with KS or HH being dismissed as "late developers" at the age of 16 if puberty has not started by then. The constant dismissal of people with this tag "late developer" gets to be very annoying after a while and being told to wait and see well into their late teens.
2. While KS / HH are genetic disorders there is no one genetic test that can detect them. While some gene defects are known to caused KS and some of these can be tested for the majority of KS cases still have an unknown genetic cause.
3. Diagnosis normally only occurs by eliminating other more common conditions.
4. It is difficult, but not impossible, to diagnose KS or HH before the age puberty is due. Still the majority of people are not diagnosed until their late teens or early 20's when puberty still has not started.
Friday, December 17, 2010
Wednesday, December 08, 2010
Not everybody will start puberty at the same age, in any peer group there will always be people who start earlier than others.
However there does come a stage when you end up being the last one to start. By the age of 15 most people, over 95% of them, should have at least started puberty.
By the age of 16 virtually everybody should have started.
Kallmann syndrome is not an easy condition to diagnose mainly because it is so poorly understood, especially by GP's or primary physicians. A lot of people in my position at the age of 15, 16, or 17 are told that they are just a late starter, late bloomer or told they should just go away and wait a few more months.
For some people this may well be true, but for those of us with Kallmann syndrome puberty will never start and you go into your late teens and early 20's thinking there is something very wrong, you are the only person in the world that missed out on puberty and getting a strong mistrust of the medical profession.
At the age of 16 if somebody has not started puberty they should be referred to an endocrinologist for specialist review. They then can determine whether it is a case of "delayed" puberty or a possible case of Kallmann Syndrome or HH.
Some doctors are reluctant to send teenagers for review and tell them all will be OK soon enough. This can be potentially very emotionally damaging to the person involved. Puberty is a very important step both physically and psychologically in any person's development and to fell left behind when the rest of the peer group is advancing can produce effects which last long into the person's life.
In all my conversations and meetings I have with people with Kallmann syndrome one point is made very clear, the people who cope better with this condition are those who are diagnosed and treated early in life, ideally between the ages of 15-17.
However there does come a stage when you end up being the last one to start. By the age of 15 most people, over 95% of them, should have at least started puberty.
By the age of 16 virtually everybody should have started.
Kallmann syndrome is not an easy condition to diagnose mainly because it is so poorly understood, especially by GP's or primary physicians. A lot of people in my position at the age of 15, 16, or 17 are told that they are just a late starter, late bloomer or told they should just go away and wait a few more months.
For some people this may well be true, but for those of us with Kallmann syndrome puberty will never start and you go into your late teens and early 20's thinking there is something very wrong, you are the only person in the world that missed out on puberty and getting a strong mistrust of the medical profession.
At the age of 16 if somebody has not started puberty they should be referred to an endocrinologist for specialist review. They then can determine whether it is a case of "delayed" puberty or a possible case of Kallmann Syndrome or HH.
Some doctors are reluctant to send teenagers for review and tell them all will be OK soon enough. This can be potentially very emotionally damaging to the person involved. Puberty is a very important step both physically and psychologically in any person's development and to fell left behind when the rest of the peer group is advancing can produce effects which last long into the person's life.
In all my conversations and meetings I have with people with Kallmann syndrome one point is made very clear, the people who cope better with this condition are those who are diagnosed and treated early in life, ideally between the ages of 15-17.
Sunday, December 05, 2010
Kallmann Syndrome is not an easy condition for people to understand. Families, partners and friends of people with KS or HH will hopefully help to be understanding, but it is almost impossible for them to know what it is like to have a condition which prevents you from not going through a fundamental stage of development.
One of the big hurdles is the initial diagnosis with most cases of absent / delayed puberty not being taken seriously by primary clinicians. Far too often I hear stories about people who are 16 or older being told to "wait and see", or that they are a "late bloomer". Over 99% of people should have at least started puberty by the time they are 16. Anybody who is 16 with no obvious puberty signs should be referred for an endocrinologist review to determine if they could have KS / HH.
Once diagnosed treatment is fairly straight forward. The 3 monthly injection now available can be stretched to 6 months for some people. Fertility treatments are available and are successful in a lot of cases, both for the men and women.
While on the physical side Kallmann syndrome is a fairly benign condition. It has no shortened life expectancy associated with it and no physical pain. If left untreated the major problem would be the greatly increased risk of osteoporosis or brittle bones due to the low levels of testosterone or oestrogen.
It is the psychological side of Kallmann syndrome that is so poorly understood. I think a lot of it arises from the poor self image a lot of people with KS / HH have. Missing out on such a key developmental step, both physically and emotionally means some people with KS / HH take a long time to catch up with their peer group, if they ever do.
While most people with KS / HH can have normal sex lives, for a lot of people there is a major obstacle of poor self image that they have to overcome. In my own non-professional opinion, but through talking to a lot of guys with KS or HH it is those who have been diagnosed & treated at a later age that have the most trouble forming and keeping relationships.
One of the big hurdles is the initial diagnosis with most cases of absent / delayed puberty not being taken seriously by primary clinicians. Far too often I hear stories about people who are 16 or older being told to "wait and see", or that they are a "late bloomer". Over 99% of people should have at least started puberty by the time they are 16. Anybody who is 16 with no obvious puberty signs should be referred for an endocrinologist review to determine if they could have KS / HH.
Once diagnosed treatment is fairly straight forward. The 3 monthly injection now available can be stretched to 6 months for some people. Fertility treatments are available and are successful in a lot of cases, both for the men and women.
While on the physical side Kallmann syndrome is a fairly benign condition. It has no shortened life expectancy associated with it and no physical pain. If left untreated the major problem would be the greatly increased risk of osteoporosis or brittle bones due to the low levels of testosterone or oestrogen.
It is the psychological side of Kallmann syndrome that is so poorly understood. I think a lot of it arises from the poor self image a lot of people with KS / HH have. Missing out on such a key developmental step, both physically and emotionally means some people with KS / HH take a long time to catch up with their peer group, if they ever do.
While most people with KS / HH can have normal sex lives, for a lot of people there is a major obstacle of poor self image that they have to overcome. In my own non-professional opinion, but through talking to a lot of guys with KS or HH it is those who have been diagnosed & treated at a later age that have the most trouble forming and keeping relationships.
Sunday, October 24, 2010
Kallmann syndrome is a form of hypogonadotrophic hypogonadism (HH).
Kallmann syndrome can be described as HH with an associated lack of sense of smell.
As far as diagnosis & treatment is concerned there is no difference between Kallmann syndrome and HH.
Hypogonadism is the condition where the gonads (testes in men, ovaries in women) stop functioning correctly and do not produce the hormones they normally do. This is a fairly common occurrence in older age, especially in men when testosterone levels can fall from middle age onwards.
Hypogonadotrophic hypogonadism (HH) is not the same condition and is a lot rarer than normal hypogonadism. Normally the testes & ovaries are controlled by hormones produced by a structure within the brain called the pituitary gland. These hormones are called gonadotrophins.
In HH the levels of gonadotrophins are so low as to prevent the testes & ovaries from functioning correctly.
In normal hypogonadism the testes & ovaries did function correctly at one stage.
In HH the testes & ovaries never had the chance to function correctly as they never had the correct gonadotrophin levels produced by the pituitary in order to perform correctly.
Gonadotrophins = hormones that act on the gonads (ovaries / testes)
Hypogonadism = under performance by the testes / ovaries
Hypogonadotrophic hypogonadism = under performance by the testes / ovaries due to low levels of gonadotrophins.
In Kallmann syndrome / HH the failure to enter puberty is due to the lack of gonadotrophin release by the pituitary gland which prevents the development of the testes / ovaries normally seen at puberty.
Kallmann syndrome can be described as HH with an associated lack of sense of smell.
As far as diagnosis & treatment is concerned there is no difference between Kallmann syndrome and HH.
Hypogonadism is the condition where the gonads (testes in men, ovaries in women) stop functioning correctly and do not produce the hormones they normally do. This is a fairly common occurrence in older age, especially in men when testosterone levels can fall from middle age onwards.
Hypogonadotrophic hypogonadism (HH) is not the same condition and is a lot rarer than normal hypogonadism. Normally the testes & ovaries are controlled by hormones produced by a structure within the brain called the pituitary gland. These hormones are called gonadotrophins.
In HH the levels of gonadotrophins are so low as to prevent the testes & ovaries from functioning correctly.
In normal hypogonadism the testes & ovaries did function correctly at one stage.
In HH the testes & ovaries never had the chance to function correctly as they never had the correct gonadotrophin levels produced by the pituitary in order to perform correctly.
Gonadotrophins = hormones that act on the gonads (ovaries / testes)
Hypogonadism = under performance by the testes / ovaries
Hypogonadotrophic hypogonadism = under performance by the testes / ovaries due to low levels of gonadotrophins.
In Kallmann syndrome / HH the failure to enter puberty is due to the lack of gonadotrophin release by the pituitary gland which prevents the development of the testes / ovaries normally seen at puberty.
Saturday, October 23, 2010
Questions to ask the GP if you are worried about delayed puberty:
Puberty in boys should start between the ages of 12 – 14 and in girls between the ages of 11 – 13.
Some boys will always be later than other boys and there is a fundamental difference between a “constitutional delay of puberty” and a case of Kallmann syndrome.
Kallmann syndrome is a very rare condition and will not be the first condition that a GP would normally suspect when presented with a case of absent puberty.
It has been common for GP’s to have a “wait and see” approach to cases of delayed puberty, assuming that puberty will start eventually. For a lot of boys this indeed would be the case. However in a case of Kallmann syndrome puberty will not commence without treatment. It is not uncommon for people with Kallmann syndrome to be dismissed by their doctors so often as late developers they loose faith in going forward with such an embarrassing condition. It is not that uncommon for men to get into their 20’s or 30’s before a correct diagnosis is reached.
Experts in Kallmann syndrome now suggest that any boy who has not started puberty by 15 or a woman not started having periods by 14 should be referred to an endocrinologist for specialist review. An endocrinologist can then differentiate between a case of delayed puberty and a potential case of Kallmann syndrome.
If a boy has not started puberty by 14 or a girl who has not started periods by 13 and the levels of the pituitary hormones LH and FSH are low there should be no reason for a delay for a referral to an endocrinologist. The presence of other signs such as lack of sense of smell, family history of “late developing” or infertility, un-descended testes at birth should make an early referral even more important. This is particularly important with women as there can be a wide range of conditions that could prevent periods from commencing and it is important to get the correct diagnosis quickly.
What is the best age for treatment to start:
The age treatment starts will depend on a number of factors which the endocrinologist has to take into account. In younger patients there is a balance to be made between the time treatment starts and the dosage used. Before the age of 16 some doctors are reluctant to give the full adult dose of testosterone (around 200 – 400 mg per month) until it is sure that normal adult height is obtained. If full dose treatment starts too early it can risk fusing the growth plates of the long bones too early and full height is not obtained.
Once full adult dose treatment starts changes should normally start occurring within 6 months. One important point to bear in mind is that the levels of testosterone should be monitored during treatment so that the levels are of adequate adult dose throughout the treatment cycle.
For the younger patients, for ages from 13 – 16, doctors often use a step by step approach starting in small doses of testosterone, such as 50 or 100 mg per month. This is normally reviewed at 3 month or 6 month stages to see if there are any signs of pubertal development. If there is any increase in testicular size it could suggest that it is a case of delay of puberty rather than Kallmann syndrome. The doctor will then re-check the levels of the pituitary hormones LH and FSH to confirm the diagnosis. If LH & FSH remain low the doctor may step up the dose up to adult levels, the rate this occurs will vary from patient to patient but in general by the age of 16 the full adult dose is normally given. The treatment is normally in the form of injectable testosterone (Sustanon or Nebido) as this gives the best effectiveness. Oral testosterone is unlikely to be suitable to patients with Kallmann syndrome.
What changes will occur:
This will depend on the age treatment starts. A person with Kallmann syndrome will never go through a totally normal puberty while on hormone replacement therapy as the testes will not grow and the ovaries will not function. However all the other secondary sexual characteristics should occur including body & pubic hair growth, muscle development, voice breaking and a more adult like appearance.
Penile size is an issue for all men and not just those with Kallmann syndrome. As a general rule the earlier treatment starts, ideally before the age of 16, the more chance there is of a normal penile length. The later the treatment starts the less chance there is of the treatment of having any effect on penile size.
Changes should start occurring within six months of treatment and may take up to two years to complete as in any person going through puberty.
Puberty in boys should start between the ages of 12 – 14 and in girls between the ages of 11 – 13.
Some boys will always be later than other boys and there is a fundamental difference between a “constitutional delay of puberty” and a case of Kallmann syndrome.
Kallmann syndrome is a very rare condition and will not be the first condition that a GP would normally suspect when presented with a case of absent puberty.
It has been common for GP’s to have a “wait and see” approach to cases of delayed puberty, assuming that puberty will start eventually. For a lot of boys this indeed would be the case. However in a case of Kallmann syndrome puberty will not commence without treatment. It is not uncommon for people with Kallmann syndrome to be dismissed by their doctors so often as late developers they loose faith in going forward with such an embarrassing condition. It is not that uncommon for men to get into their 20’s or 30’s before a correct diagnosis is reached.
Experts in Kallmann syndrome now suggest that any boy who has not started puberty by 15 or a woman not started having periods by 14 should be referred to an endocrinologist for specialist review. An endocrinologist can then differentiate between a case of delayed puberty and a potential case of Kallmann syndrome.
If a boy has not started puberty by 14 or a girl who has not started periods by 13 and the levels of the pituitary hormones LH and FSH are low there should be no reason for a delay for a referral to an endocrinologist. The presence of other signs such as lack of sense of smell, family history of “late developing” or infertility, un-descended testes at birth should make an early referral even more important. This is particularly important with women as there can be a wide range of conditions that could prevent periods from commencing and it is important to get the correct diagnosis quickly.
What is the best age for treatment to start:
The age treatment starts will depend on a number of factors which the endocrinologist has to take into account. In younger patients there is a balance to be made between the time treatment starts and the dosage used. Before the age of 16 some doctors are reluctant to give the full adult dose of testosterone (around 200 – 400 mg per month) until it is sure that normal adult height is obtained. If full dose treatment starts too early it can risk fusing the growth plates of the long bones too early and full height is not obtained.
Once full adult dose treatment starts changes should normally start occurring within 6 months. One important point to bear in mind is that the levels of testosterone should be monitored during treatment so that the levels are of adequate adult dose throughout the treatment cycle.
For the younger patients, for ages from 13 – 16, doctors often use a step by step approach starting in small doses of testosterone, such as 50 or 100 mg per month. This is normally reviewed at 3 month or 6 month stages to see if there are any signs of pubertal development. If there is any increase in testicular size it could suggest that it is a case of delay of puberty rather than Kallmann syndrome. The doctor will then re-check the levels of the pituitary hormones LH and FSH to confirm the diagnosis. If LH & FSH remain low the doctor may step up the dose up to adult levels, the rate this occurs will vary from patient to patient but in general by the age of 16 the full adult dose is normally given. The treatment is normally in the form of injectable testosterone (Sustanon or Nebido) as this gives the best effectiveness. Oral testosterone is unlikely to be suitable to patients with Kallmann syndrome.
What changes will occur:
This will depend on the age treatment starts. A person with Kallmann syndrome will never go through a totally normal puberty while on hormone replacement therapy as the testes will not grow and the ovaries will not function. However all the other secondary sexual characteristics should occur including body & pubic hair growth, muscle development, voice breaking and a more adult like appearance.
Penile size is an issue for all men and not just those with Kallmann syndrome. As a general rule the earlier treatment starts, ideally before the age of 16, the more chance there is of a normal penile length. The later the treatment starts the less chance there is of the treatment of having any effect on penile size.
Changes should start occurring within six months of treatment and may take up to two years to complete as in any person going through puberty.
Friday, September 03, 2010
Treatment options available for Kallmann syndrome or HH.
Hormone replacement only:
Tablets - not normally effective as dose is far too low
Daily gel application - gives good levels but can cause skin irritation with some
Daily patch application
Fortnightly or monthly injection, normally with Sustanon.
Injection every 3 months, such as Nebido. Not available in every country but appears to be very effective for treating KS or HH with stable levels throughout the treatment cycle.
Implants every 6 months, convienient but can leave scarring at implant site.
Injection with hCG / Pregnyl, can be expensive but the best method to give a more natural testosterone level and does have the advantage of increased testicular size in some men.
hCG is also the pre-cursor for fertility treatments. If a good response is achieved with hCG then a FSH type injection such as Gonal-F or Perganol is used to start sperm production and hopefully achieve fertility.
Hormone replacement only:
Tablets - not normally effective as dose is far too low
Daily gel application - gives good levels but can cause skin irritation with some
Daily patch application
Fortnightly or monthly injection, normally with Sustanon.
Injection every 3 months, such as Nebido. Not available in every country but appears to be very effective for treating KS or HH with stable levels throughout the treatment cycle.
Implants every 6 months, convienient but can leave scarring at implant site.
Injection with hCG / Pregnyl, can be expensive but the best method to give a more natural testosterone level and does have the advantage of increased testicular size in some men.
hCG is also the pre-cursor for fertility treatments. If a good response is achieved with hCG then a FSH type injection such as Gonal-F or Perganol is used to start sperm production and hopefully achieve fertility.
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