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Rare Connect Video on You Tube

August 3, 2014

This is a link to our first video on Rare Connect. It is a series of questions and answers between myself and a KS expert, Andrew Dwyer.

Through the Rare Connect organisation we hope to make more of these videos and invite patients to join in with on line patient meetings where they can talk to fellow patients and ask KS experts questions either on video or by text.

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5 Comments
  1. Diana permalink

    Could you tell me more about Kallmann in women. Also about neural hearing defect.

    • Kallmann syndrome & CHH is harder to diagnose in women than it is men as there can be a number of different reasons menstruation fails to occur. The symptoms are the same as in men; a failure to progress through puberty and infertility.

      There are treatments available both to replace the missing oestrogen / progesterone and in some cases induce fertility. Women with KS / CHH need to be on some form of treatment; most importantly to replace the missing oestrogen which is essential for healthy & strong bones. Without treatment women (and men) with KS / CHH are at increased risk of developing osteoporosis.

      There are two main delivery methods of providing oestrogen / progesterone combination, depending on the age and choice of the patient; either a continuous oestrogen treatment or one that includes progesterone to allow for a menstrual type withdrawal bleed every one or two months to keep the uterine lining healthy. There are many forms of both oestrogen / progesterone medications on the market and it might take some discussions with your doctor to achieve the correct dose and form of treatment.

      One of the genes involved in causing KS / CHH in both men and women is also involved in the development of hearing. A defect in this gene can lead to a neural hearing loss in one or both ears. Hearing loss as well as a lack of sense of smell is an associated symptom with KS.

      • Steve and Diana permalink

        Our main problem at this time is auditory processing defect. This is causing her receptive and expressive language IQ to be 64. visual intelligence is 98. Is this caused by neural hearing loss? She needs help with daily life in the area of communication and math. Because her IQ fails in the average range we do not have a place to go to get help. Any ideas?

      • Steve and Diana permalink

        If this causes you to be infertile than how is this passed on?

      • Fertile treatments are available and are successful in around 70% of cases for both males and females.

        The condition is genetic in origin but can arise spontaneously with no previous family history. There is no reliable way of predicting the chances of the condition being passed on to the next generation.

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