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Update. Jan 2019.

I am planning to take part in a clinical trial in London, UK. They are looking into the effect the hormone Kisspeptin has on patients with Kallmann syndrome / CHH. They are keen to hear from any patient in the UK who would like to take part and they will pay for your study visit and travel and accommodation to London. More details:

Kisspeptin clinical trial.

I am currently not on testosterone treatment. Instead, I take hCG (human chorionic gonadotropin). This is a hormone normally only produced by females but has the same activity as luteinising hormone, one of the two pituitary hormones missing due to Kallmann syndrome / CHH. The hCG allows for the natural production of testosterone, rather than having to inject it. With no treatment my testosterone level is barely above 0.5 nmol/l but while on hCG I can get an almost normal testosterone level.

I used to take a drug called Pregnyl but unfortunately, this has ceased production. I am forced to take a version of hCG called Ovitrelle which is designed for female use but can be used in males in lower doses. It does have the advantage in coming in a pre-filled syringe pen form which makes injecting easier.

IMG_0456

Ovitrelle pen. hCG. human chorionic gonadotropin

This week I finally had the chance to meet up with a UK friend who I have talked to online for over 7 years but had never had the chance to meet in person. I always enjoy the chance of meeting up with KS friends in person. It is such a rare condition often patients do not get a chance to meet up and talk with another person who understands what it is like to have the condition. I think it can be a very useful experience to talk with fellow patients when you can ask questions or talk about things that would be very difficult to do with other friends or family. We have groups on Facebook and Rare Connect where you can contact fellow patients.

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Rare Disease Day – Patient Story.

One of younger KS patients from the UK has had his Kallmann syndrome story published on the Rare Disease Website:

Me:Just not quite yet

I think it is useful when patients are able to talk about their rare condition to help raise awareness to help other patients get a diagnosis. By its very nature, Kallmann syndrome can be a difficult condition to talk about openly.

I have always enjoyed the chance to talk about my condition to others and I think it helps me in my own life.

 

 

Clinical Trial for Kisspeptin Test in London.

A clinical trial in London for Kisspeptin test.
 
Kallman’s syndrome / Congenital Hypogonadotropic Hypogonadism (CHH) is a condition that is frequently due to a problem with the function of an important part of the brain called the ‘hypothalamus’.
 
Kisspeptin is a naturally occurring hormone (already present in the body) that was discovered in 2003 and is known to be able to be able to safely stimulate the hypothalamus.
 
Kisspeptin has been given at our centre in Imperial College London to several hundred men and women and has not been associated with any side effects to date.
 
We are looking to better understand how useful a ‘kisspeptin test’ could be to identify patients with CHH and whether their ability to respond to kisspeptin could provide useful information about the current function of their hypothalamus (for example, patients with CHH can sometimes spontaneously normalise their hypothalamic function, which could be identified through a kisspeptin test).
 
The current research study would involve 2 visits (each lasting up to 7hrs in total starting in the morning) occurring at least one week apart at Charing Cross Hospital in Hammersmith, London.
 
Following an explanation of the study and a review of clinical details and examination, potential participants can indicate their willingness to take part in the research by signing a research consent form.
 
All research ethical practice such as confidentiality will be respected throughout.
 
One visit will be to have a ‘kisspeptin test’ and the other will be to have the currently used test called a ‘GnRH test’.
At each visit, a cannula (plastic tube) would be placed in a vein in the arm to allow us to give the GnRH or kisspeptin hormones and then to take blood without requiring any further needles.
 
We would not expect participants to encounter any adverse effects during or after either visit in either the short or long term.
 
A blood sample will also be taken to screen for genes involved in the function of the hypothalamus.
A formal smelling test will be performed to record whether the sense of smell is intact.
 
Participants can eat and drink as usual and are encouraged to bring food/entertainment (wifi will be made available).
 
Participants will be reimbursed £100 for each visit for their time in addition to travel expenses.
If travelling from outside of London, we will also arrange accommodation if needed.
 
If you would like to learn more about this research, you can email us at
 
kisspeptin@imperial.ac.uk
 
and leave your contact number and we will be pleased to get in touch with more information.

Brief report from Kallmann syndrome patient meeting in Boston. Nov. 2018.

Key points from 2018 Boston Meeting:

 95% of individuals will start puberty between the ages of 10 and 15.

99.8% of individuals will start puberty by the age of 16.

 

Kallmann syndrome / CHH is not delayed puberty.

 

Latest estimates of incidence are between 1 in 10,000 and 1 in 48,000 live births.

 

4 male cases to every 1 female case.

 

Now over 30 causative gene defects identified in KS / CHH cases, but these still only cover 50% of cases.

 

These causative genes can cause the extra non-reproductive symptoms that are seen in some, but certainly not all KS / CHH cases:

Anosmia

Mirror hand movements

Cleft palate / harelip

Fused fingers

Missing teeth

Scoliosis

Deafness

Missing one kidney

 

The mini-puberty from birth to 6 months can be used as a diagnostic tool but is more apparent in males than females.

 

In gonadotropin therapy, FSH only therapy should be applied for at least three months before any hCG therapy begins. This will allow for the maximum development of sperm-producing Sertoli cells within the testes.

 

Partial KS / CHH can occur in 5% of male cases where there is a very low sperm count, enough for un-aided conception but with testosterone levels too low to develop full secondary sexual characteristics and male pattern behaviour.

 

Younger females should be on oestrogen only therapy first to allow full development of secondary sexual characteristics before adding in progesterone. Progesterone can either be taken separately or through the use of the cyclical oral contraceptive. Progesterone is normally required to maintain a healthy uterine lining.

 

Andrew Dwyer and the endocrinology team at Massachusetts General Hospital have applied for a grant to fund the generation of a patient registry for Kallmann syndrome / CHH. The aim of this is to build a database of information that follows the health progress of patients with KS / CHH from diagnosis onwards. The hope is to build a picture of the requirements for patients in terms of treatment and psychological support after diagnosis. The grant will also help fund future patient meetings.

Update – US patient meeting coming up.

Less than 3 weeks to go until the patient meeting at Boston College hosted by Dr Andrew Dwyer. We are hoping to have about 15 patients there hopefully.

The meeting will last from 11 am to 4 pm and have a meal afterwards at a local restaurant.  Patient. Andrew will give a couple of quick presentations of the basics of Kallmann syndrome and be able to answer any questions raised. It will also be a chance to talk and meet with fellow patients.

There will also be group conversations to help Andrew in developing web tools to help patients gain more information on what patients require from health care professionals. 

Patient.Meeting_Boston.College_Nov.17.2018

I am looking forward to meeting some new fellow patients and seeing old friends again.

I had an appointment with my new KS consultant in Newcastle, UK. Dr Richard Quinton was the doctor who first diagnosed me when he was at the Royal Free Hospital in London and I worked there as a Biomedical Scientist. It worth the trip from London to see a specialist KS endocrinologist.

I have switched from Nebido to go back onto hCG (human chorionic gonadotropin). I seem to prefer hCG as it gives a natural testosterone production. Since Pregnyl is not available in the UK anymore I have to use Ovitrelle which is designed for female use. The fact it comes in a pre-filled pen is helpful but the dose is too high for male use so I have to use only part of the pen each time. I am waiting to see how good my testosterone level will be with this treatment.

Survey results for Kallmann syndrome / CHH patients.

Over the past couple of months, I have placed online anonymous surveys in the Facebook patient groups. The idea was to gain an idea of the experiences and opinions of fellow Kallmann syndrome / CHH patients and try to see if there were any shared experiences.

Since Kallmann syndrome / CHH covers a broad spectrum of symptoms with different severities there should be some differences, especially when people are diagnosed and treated at different ages.

The results can be found using this link:

Link to survey results on DelayedPuberty.com

Some of the results were as expected.

It is clear that a lot of Kallmann syndrome / CHH patients feel that the psychological issues associated with having the condition are not often recognised or discussed. Early treatment and diagnosis can help but more support is required.

It was perhaps reassuring to see that a good majority of people who responded did not experience negative comments about after having sexual experiences. This perhaps could be reassuring to younger patients.

I find interacting with fellow patients, both in person and online very helpful. Since Kallmann syndrome / CHH is so rare it is important for patients to be able to talk to fellow patients to gain more information and to know what questions to ask their doctors.

US Patient meeting in Boston.

We are hosting a US patient meeting on 17th November 2018 at Boston College in Chestnut Hill, Boston, MA.

The meeting will be hosted by Dr Andrew Dwyer and a specialist from the Reproductive Endocrinology Unit at Massachusetts General Hospital in Boston.

The meeting will be held from 11am to 4pm. There will also be a dinner after the event at a local restaurant. The college is in the Chestnut Hill area of Boston and is served by the green line of the MBTA subway. It is also accessible by bus from downtown Boston.

The meeting will be a good chance to meet fellow patients in a friendly, relaxed environment and to be able to ask specialists in Kallmann syndrome questions about the condition.

Dr Dwyer is a an experienced Kallmann syndrome researcher and clinical specialist nurse with a special interest in developing web-based patient materials to help both patients and clinicians interact more and gain a better understanding of the condition.

For more details e-mail:

 

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