British Medical Journal article. Patient Journey - Kallmann syndrome._
The British Medical Journal todays posted an article, wrtitten by me about my story of having Kallmann syndrome.
Friday, December 07, 2012
Sunday, March 04, 2012
I was diagnosed with Kallmann syndrome at the age of 22 after spending my teenage years and early adulthood being labelled as a “late developer” or “late bloomer”.
Childhood years:
My early childhood was fairly uneventful medically apart from 70% hearing loss in one ear and no sense of smell. I reached the normal pre-puberty Tanner stages and up to the age of twelve nothing seemed to be amiss. Going through the early teenage years it was a case of waking up each day and hoping something was going to start to develop. I knew I 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 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 the permit to work on a newspaper delivery round led to a referring to a GP at the age of 15. At that stage the GP said I was just late starting and I should wait and see and was sent on my way.
Teenage years:
Up to the age of 14 I was a normal enough school boy 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 time I went to University it was obvious something was wrong but I did not have the drive to do anything about it. I even stopped taking the Sustanon for a time at University as it seemed to having no effect on me at all. Looking back now there were opportunities for me at University but without the drive and the knowledge of the condition I did not have the interest or confidence to notice them, let alone follow up on them.
On a physical level the late diagnosis has left me with osteopenia which is still present but at least not deteriorating. The lack of gonadotrophins and hence androgens in my teenage years also resulted in a delay in the development of secondary sexual characteristics. The lack of testicular development will always be present in Kallmann syndrome but the lack of penile growth will always leave the question of what would have happened if testosterone treatment had been started earlier and at the correct dose.
In my experience with fellow patients it is those who are diagnosed early and treated early who cope with the condition better. For a lot of people I talk to the very fact they can put a name to the condition and realise that they are not the only person in the world not going through puberty is a big step in being able to cope with the condition.
Referral to a reproductive endocrinologist allows for the possibility for fertility treatments. Even though there is a reported good success rate with gonadotrophin therapy for both men and women with KS there is not universal availability of treatments across the country probably due to the high cost FSH treatments.
I feel there is a good argument for FSH treatment to be available to younger men with KS even if fertility is not the ultimate goal. The testicular development achieved while on FSH can help with self confidence and emotional development.
Pregnyl / hCG can be used in isolation just for testosterone production and is useful indicator for the effectiveness of FSH treatment.
The type of hormonal replacement therapy used is also important for both men and women. The Nebido injection for men may be more suitable than the Sustanon injection due its length of action, while for some the gel, capsules or deep muscular implants may be more beneficial.
The most important treatment is possibly the diagnosis itself. Being labelled as a “late starter” or “late bloomer” when in your early twenties can be very self destructive. The ability to put a label on the condition and the knowledge that it is a recognised condition is the first step in coming to terms with a condition that is difficult to describe to others. The use of patient support groups on Yahoo and Facebook also play a big part in people being able to talk about the condition but this can only be achieved once they have got the correct diagnosis.
Kallmann syndrome is a form of hypogonadotrophic hypogonadism with the associated symptom of anosmia. It affects both men and women but is at least five times more common in men. It is a congenital condition with currently nine known gene defects linked to its cause which combined still only account for less than 40% of cases. Patients are left with poorly developed or no secondary sexual characteristics, are infertile and at increased risk of osteoporosis.
My early childhood was fairly uneventful medically apart from 70% hearing loss in one ear and no sense of smell. I reached the normal pre-puberty Tanner stages and up to the age of twelve nothing seemed to be amiss. Going through the early teenage years it was a case of waking up each day and hoping something was going to start to develop. I knew I 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 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 the permit to work on a newspaper delivery round led to a referring to a GP at the age of 15. At that stage the GP said I was just late starting and I should wait and see and was sent on my way.
Teenage years:
Up to the age of 14 I was a normal enough school boy 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 nothing was starting so I was referred to a general medical consultant and then an urologist at Derifford hospital in Plymouth. I was put on low dose Sustanon monthly but with no follow up assessment, it was just assumed it would all start naturally.
By the time I went to University it was obvious something was wrong but I did not have the drive to do anything about it. I even stopped taking the Sustanon for a time at University as it seemed to having no effect on me at all. Looking back now there were opportunities for me at University but without the drive and the knowledge of the condition I did not have the interest or confidence to notice them, let alone follow up on them.
Diagnosis:
The first time I actually saw an endocrinologist was when I started my first job as a Biomedical Scientist at the Royal Free Hospital in North London. I had studied endocrinology and haematology as part of my biomedical science degree and had a bit of an understanding on how puberty was supposed to work. When I started work at the Royal Free I was determined to talk to and endocrinologist even though my GP still had not referred me. Under my own volition I contacted Dr Richard Quinton, at the time a specialist registrar in endocrinology under Prof. Pierre-Marc Bouloux. One of the first questions he asked was “did I have a sense of smell”. It was the first time any doctor had asked me that question.
From there the correct diagnosis came soon after and I was put on a suitable dose of testosterone, first in the form of Testogel and then later Nebido. The delay from the age of 16 to 22 meant I went six years with a very low testosterone level with the subsequent delay in secondary sexual development and bone strength.
Blood tests then confirmed the low levels of FSH and LH which, combined with the anosmia confirmed the diagnosis. A subsequent MRI showed the absence of the olfactory bulbs. A DEXA scan showed osteopenia and I was prescribed Fosamax at the time, which has now been replaced with high dose Vitamin D therapy. At the time of diagnosis I probably looked 10 years younger than I was and never shaved.
Delay of Diagnosis.
On a physical level the late diagnosis has left me with osteopenia which is still present but at least not deteriorating. The lack of gonadotrophins and hence androgens in my teenage years also resulted in a delay in the development of secondary sexual characteristics. The lack of testicular development will always be present in Kallmann syndrome but the lack of penile growth will always leave the question of what would have happened if testosterone treatment had been started earlier and at the correct dose.
It is on the psychological level that the late diagnosis has the biggest impact in my view. Judging by my own experiences and those of fellow patients I meet and talk to now this is an area which is very frequently overlooked.
With puberty and adolescence being so closely linked if a patient does not enter puberty at almost the same stage as his peer group he risks being left behind socially and emotionally as well as physically. I feel that this emotional development of social interaction is difficult to catch up on and is often a result of feeling socially isolated when puberty fails to start.
In my experience with fellow patients it is those who are diagnosed early and treated early who cope with the condition better. For a lot of people I talk to the very fact they can put a name to the condition and realise that they are not the only person in the world not going through puberty is a big step in being able to cope with the condition.
Treatments available:
Referral to a reproductive endocrinologist allows for the possibility for fertility treatments. Even though there is a reported good success rate with gonadotrophin therapy for both men and women with KS there is not universal availability of treatments across the country probably due to the high cost FSH treatments.
I feel there is a good argument for FSH treatment to be available to younger men with KS even if fertility is not the ultimate goal. The testicular development achieved while on FSH can help with self confidence and emotional development.
Pregnyl / hCG can be used in isolation just for testosterone production and is useful indicator for the effectiveness of FSH treatment.
The type of hormonal replacement therapy used is also important for both men and women. The Nebido injection for men may be more suitable than the Sustanon injection due its length of action, while for some the gel, capsules or deep muscular implants may be more beneficial.
Saturday, January 28, 2012
What are hormones?
In a general sense hormones are the body’s messenger service. There are over 40 known hormones that act within the body. They are each released by a specific endocrine gland (such as the pituitary gland, adrenal glands, pancreas or testes / ovaries) in response to a specific stimulus, possibly another hormone. A hormone is released to generate a specific result. In normal circumstances the hormonal system works on a negative feedback mechanism.
A stimulus causes the endocrine gland to release a hormone -> The hormone causes the stimulus to be stopped or reduced -> The endocrine gland stops producing the hormone
The classic example is the role of insulin in the role of maintaining the blood sugar levels. Insulin is only released in response to an increase in sugar levels, as soon as blood sugar levels falls; the production of insulin is stopped. The breakdown in this regulation causes the most common hormonal diseases – diabetes mellitus.
In normal puberty the pathway is:
Hypothalamus gland produces GnRH (gonadotrophin releasing hormone)
Which causes the
Pituitary gland to produce LH & FSH (luteinsing hormone / follicle stimulating hormone)
Which cause the
Testes to produce testosterone & sperm
Or
Ovaries to produce progesterone and oestrogen & allow ovulation to occur
The sex hormones also have other effects around the body, not just linked to puberty and fertility.
In KS or HH either the pituitary gland does not receive the GnRH, or it is unable to respond to the GnRH. Without the first signal the pituitary will not produce its hormones (LH and FSH) that in turn will prevent the testes or ovaries producing their own hormones at the required time to cause puberty. For some people with KS / HH there is no physical problem with the testes or ovaries, they just have not had correct signal from the pituitary gland in order to function correctly.
The treatments people get with KS / HH will be replacing one of the hormones missing in the chain. Normally this is either testosterone or oestrogen / progesterone. However it is also possible to be given FSH / LH or GnRH in certain circumstances, especially if fertility is desired.
Can a person with KS or HH become fertile?
Yes, possibly, but only with specialist treatment and if other circumstances are favourable. There have been many cases of people with KS / HH having children, sometimes through a form of IVF or other assisted fertilisation programmes. As with any type of fertility treatment there are many other factors to consider and it can take many months of treatment and there is no guarantee as with any form of fertility treatment. It has been noted that fertility can be achieved with Kallmann’s women more quickly than with other patients.
Is there any effect on expected lifespan?
There is no reliable evidence that KS or HH has any effect on the life span on an individual. It is worth point bearing in mind though that there are some rare symptoms that can occur with KS and HH that may have an effect on life span. These other symptoms may be connected to KS or HH or may have arisen regardless.
Are there any risks if KS or HH is left untreated?
Yes there can be. The major problem with a person with untreated KS or HH is the increased risk of osteoporosis or ‘brittle bone disease’. The greatly reduced levels of sex hormones seen with KS and HH have a detrimental effect on the strength of the bones. This can be easily treated with the appropriate drugs that will reduce the risk of osteoporosis to that seen in the rest of the population. It is advised that a person with KS or HH should have a bone scan (DEXA) at least every 5 years to assess their bone age and to assess the risk of osteoporosis. There is increasing evidence that Vitamin D levels play a vital role general health, not just bone strength. It is not unknown for people with KS / HH to have their Vitamin D levels monitored and prescribed tablets if the level is too low.
In a general sense hormones are the body’s messenger service. There are over 40 known hormones that act within the body. They are each released by a specific endocrine gland (such as the pituitary gland, adrenal glands, pancreas or testes / ovaries) in response to a specific stimulus, possibly another hormone. A hormone is released to generate a specific result. In normal circumstances the hormonal system works on a negative feedback mechanism.
A stimulus causes the endocrine gland to release a hormone -> The hormone causes the stimulus to be stopped or reduced -> The endocrine gland stops producing the hormone
The classic example is the role of insulin in the role of maintaining the blood sugar levels. Insulin is only released in response to an increase in sugar levels, as soon as blood sugar levels falls; the production of insulin is stopped. The breakdown in this regulation causes the most common hormonal diseases – diabetes mellitus.
In normal puberty the pathway is:
Hypothalamus gland produces GnRH (gonadotrophin releasing hormone)
Which causes the
Pituitary gland to produce LH & FSH (luteinsing hormone / follicle stimulating hormone)
Which cause the
Testes to produce testosterone & sperm
Or
Ovaries to produce progesterone and oestrogen & allow ovulation to occur
The sex hormones also have other effects around the body, not just linked to puberty and fertility.
In KS or HH either the pituitary gland does not receive the GnRH, or it is unable to respond to the GnRH. Without the first signal the pituitary will not produce its hormones (LH and FSH) that in turn will prevent the testes or ovaries producing their own hormones at the required time to cause puberty. For some people with KS / HH there is no physical problem with the testes or ovaries, they just have not had correct signal from the pituitary gland in order to function correctly.
The treatments people get with KS / HH will be replacing one of the hormones missing in the chain. Normally this is either testosterone or oestrogen / progesterone. However it is also possible to be given FSH / LH or GnRH in certain circumstances, especially if fertility is desired.
Can a person with KS or HH become fertile?
Yes, possibly, but only with specialist treatment and if other circumstances are favourable. There have been many cases of people with KS / HH having children, sometimes through a form of IVF or other assisted fertilisation programmes. As with any type of fertility treatment there are many other factors to consider and it can take many months of treatment and there is no guarantee as with any form of fertility treatment. It has been noted that fertility can be achieved with Kallmann’s women more quickly than with other patients.
Is there any effect on expected lifespan?
There is no reliable evidence that KS or HH has any effect on the life span on an individual. It is worth point bearing in mind though that there are some rare symptoms that can occur with KS and HH that may have an effect on life span. These other symptoms may be connected to KS or HH or may have arisen regardless.
Are there any risks if KS or HH is left untreated?
Yes there can be. The major problem with a person with untreated KS or HH is the increased risk of osteoporosis or ‘brittle bone disease’. The greatly reduced levels of sex hormones seen with KS and HH have a detrimental effect on the strength of the bones. This can be easily treated with the appropriate drugs that will reduce the risk of osteoporosis to that seen in the rest of the population. It is advised that a person with KS or HH should have a bone scan (DEXA) at least every 5 years to assess their bone age and to assess the risk of osteoporosis. There is increasing evidence that Vitamin D levels play a vital role general health, not just bone strength. It is not unknown for people with KS / HH to have their Vitamin D levels monitored and prescribed tablets if the level is too low.
Sunday, January 15, 2012
A patient’s perspective:
“Long term psychological effects of delayed diagnosis of Hypogonadotrophic Hypogonadism in patients with delayed puberty”.
Delayed Puberty. Rosen, DS, Foster C. Pediatrics in Review 2001;22;309
While the majority of these individuals will go on to experience normal puberty, albeit a couple of years later than their peer group; there is a perhaps a need to evaluate all patients who appear to be delayed to eliminate other causes for their pubertal failure.
One possible cause of a delay or absence of puberty is Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH). Most cases are not detected as adolescents, even if they display the anosmia seen in KS. Both KS and HH show variable physical symptoms even within family members, which in addition to the absence of a clear cut genetic test make diagnosis of KS and HH problematic at times.
Combined KS and HH have a probable incidence of approximately 1 in 4,000 males and 1 in 25,000 females. Without treatment patients will remain infertile with no or poorly defined secondary sexual characteristics and be at increased risk of developing osteoporosis.
From a patient’s point of view I feel there is a need to ensure that any adolescent with pubertal delay should be referred on for an endocrinology review. The benefits of early diagnosis and treatment of KS / HH both on a physical level and on a psychological level cannot be overestimated. An early endocrine review will be able separate a case of normal constitutional delay of puberty from a case which will require extra investigation.
From my own personal experience and from conversations with others in patient support groups the label of “late bloomer” or “late developer” can lead onto deeper psychological issues later in life as patients get left behind both physically and emotionally from their own peer group.
The social isolation some patients feel can be avoided by early diagnosis and treatment. It is clear from conversations within our support groups the earlier a diagnosis is made and the correct treatment started the more beneficial it is to the patient in later life. The ability to put a name to the condition would at least allow the patient to know there is a reason for the absence of puberty and they are not alone with the condition.
Neil Smith.
neilsmith38@hotmail.com
www.kallmanns.org
"Puberty is considered to be clinically delayed if sexual maturation has not become apparent by the age of 14 years in boys or age 13 years in girls."
"Using these criteria, approximately 2.5% of healthy adolescents will be identified as having pubertal delay"
Delayed Puberty. Rosen, DS, Foster C. Pediatrics in Review 2001;22;309
While the majority of these individuals will go on to experience normal puberty, albeit a couple of years later than their peer group; there is a perhaps a need to evaluate all patients who appear to be delayed to eliminate other causes for their pubertal failure.
One possible cause of a delay or absence of puberty is Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH). Most cases are not detected as adolescents, even if they display the anosmia seen in KS. Both KS and HH show variable physical symptoms even within family members, which in addition to the absence of a clear cut genetic test make diagnosis of KS and HH problematic at times.
Combined KS and HH have a probable incidence of approximately 1 in 4,000 males and 1 in 25,000 females. Without treatment patients will remain infertile with no or poorly defined secondary sexual characteristics and be at increased risk of developing osteoporosis.
From a patient’s point of view I feel there is a need to ensure that any adolescent with pubertal delay should be referred on for an endocrinology review. The benefits of early diagnosis and treatment of KS / HH both on a physical level and on a psychological level cannot be overestimated. An early endocrine review will be able separate a case of normal constitutional delay of puberty from a case which will require extra investigation.
From my own personal experience and from conversations with others in patient support groups the label of “late bloomer” or “late developer” can lead onto deeper psychological issues later in life as patients get left behind both physically and emotionally from their own peer group.
The social isolation some patients feel can be avoided by early diagnosis and treatment. It is clear from conversations within our support groups the earlier a diagnosis is made and the correct treatment started the more beneficial it is to the patient in later life. The ability to put a name to the condition would at least allow the patient to know there is a reason for the absence of puberty and they are not alone with the condition.
Neil Smith.
neilsmith38@hotmail.com
www.kallmanns.org
Subscribe to:
Posts (Atom)
