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KS / CHH patient survey by National Institutes of Health, USA.

Dr Angela Delaney is a KS specialist doctor working at the National Institutes of Health in Maryland USA. She has a special interest in disorders of puberty development. She works closely with the reproductive endocrinology team at Massachusetts General Hospital in Boston.

As part of on an going study on the psychological aspects of having KS or CHH her team have produced a survey for patients to complete. The survey will be done over the phone initially and will involve a on line questionnaire. The team will offer compensation for the time taken to complete the study.

Click on the link below for more information:

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Kallmann Syndrome wedding. Daily Mail Australia article.

Daniel is a KS patient from Australia. Rebecca is a KS patient from America.

They met online through a KS patient group and continued to communicate regularly, quickly developing a strong bond which grew into a relationship.

Earlier this year they got married in America.

It might be the first ever wedding between KS patients.

Australia Daily Mail article.

KS / CHH Patient Information Survey

Andrew Dwyer is a clinical researcher and specialist clinical nurse treating KS / CHH patients based at CHUV hospital in Lausanne, Switzerland.

As part of the European group working on GnRH deficiency disorders he is working on developing methods to help patients gain access to information on Kallmann syndrome / CHH. The final aim is to help patients gain access to expert clinicians and fellow patients in order to help raise awareness of the condition and ensure information on the diagnosis and treatment of KS / CHH is passed on to patients.

Attached is a link to recently produced patient information sheets and a short survey which will help in the production of more patient information.

I think patients will find these information sheets a useful source of information about their condition and a way of introducing their condition to other people who may be interested.

Patient Information survey

UK Patient meeting – 6th August. Royal Free Hospital.

We are holding a patient meeting for KS / CHH patients at the Royal Free Hospital in London on the 6th August 2016.

Attending the meeting will be two experienced KS clinicians and researchers from the KS clinic at CHUV, Switzerland, Prof Nelly Pitteloud and Dr Andrew Dwyer.

It will be a good chance to meet fellow patients in a relaxed, friendly environment and to ask experienced KS experts any questions you may have. Since KS / CHH are such rare conditions many patients do not get the chance to meet another person with the same condition. It can be a very beneficial experience to be able to meet and talk to fellow patients of different ages.

The meeting is to be held in the seminar room of the Medical School Library on the ground floor of the Royal Free Hospital, Hampstead in North London. The meeting will start at 11am and last until about 5pm.

 

Article on the “The Mighty” patient forum regarding Kallmann syndrome.

Article on the “The Mighty” patient forum regarding Kallmann syndrome.

 

 

Survey request from Genetic Alliance UK.

Letter from Genetic Alliance UK regarding genetic screening for couples with Kallmann syndrome undergoing fertility treatment.

We are doing a piece of work relevant to you, and hoped you might like to be involved.

The Human Fertilisation and Embryology Authority (HFEA) has received an application to licence preimplantation genetic diagnosis (PGD) for Kallmann syndrome. This means that a couple in the UK with a family history of the condition have applied to use PGD to conceive achild who would be free from the disease. You can find out more about the reproductive technique, preimplantation genetic diagnosis, here, and the HFEA call for information on this condition here.

When the HFEA committee makes a decision on whether to licence PGD they make this decision based on whether they think that the condition is ‘sufficiently serious’. We provide statements to the HFEA detailing the effects on an individual from the perspective of patients (rather than the clinical aspects of a condition). To fairly represent the ways that some patients could be affected by the condition, we outline the worst case scenario for those affected.

We hope to provide some patient voice on the issue, and to aid us in this work have developed a survey which we would be really grateful if you could fill in. If you feel it is appropriate we would also encourage you to disseminate the survey to patients with the condition (and their families and carers). We feel that it is really important for patients to have a voice in the process of licensing for this reproductive technique, and your input would be invaluable in this.
The answers from the survey will be used to develop a statement detailing the way that the condition affects those who have the condition from a social and psychosocial point of view. This would then be submitted as evidence to be considered by the licensing committee at the HFEA. We would, of course, be happy to submit this jointly with your organisation.

Here is a link to the survey.

 

Journal article on reversal of Kallmann syndrome & CHH.

European Journal of Endocrinology article on reversal cases.

This is a very interesting area of research I think.

There are basically two types of KS / CHH. One is where the GnRH releasing neurones have been blocked in their migration into the hypothalamus during early development, which normally results in Kallmann Syndrome cases as the olfactory (sense of smell) nerves are blocked as well.

The other type is where the action of the hypothalamus is impaired. The GnRH releasing neurones are in the right place but for some reason they do not fire in the correct manner to allow GnRH to be released correctly (called a pulse generator). This normally results in CHH where the olfactory nerves are unaffected and there is a normal sense of smell.

Whether you get a case of KS or CHH will depend on which gene or genes have been affected and where in the developmental process they have an effect.

An active area of research at the moment is looking in how the genes involved in the action of the hypothalamus operate and how they are influenced by external factors such as nutrition, stress, environment or even sexual activity. This is known as epigenetics,

There are research groups looking to see if the reproductive cycle can be restored by switching on genes that are present but are not active by modifying external factors. It is certainly early days in terms of research but the more reversal cases they find the more chance they have of finding out crucial information which will increase the understanding of KS / CHH.

Reversal is less common in KS cases where there are less GnRH nerve cells inside the hypothalamus but reversal cases have be reported. There is a theory that GnRH neurones continue to grow / move throughout life and if the eventually reach the hypothalamus in sufficient numbers the reproductive cycle can start later in life.

The reversal is always fragile and the hypogonadal state can return in some cases but it does provide a little bit of hope.

It is good to know research is ongoing in this area.

Delayed puberty website