CHARGE Syndrome Canada Newsletter fall 2008 No.17 © copywrite |
Puberty disorders link to CHD7
Past Edition of the Newsletter
Puberty Disorders link to CHD7
This October, 2008 Georgia medical researchers published an article in the American Journal of Human Genetics to link disorders in puberty to the gene CHD7, that is also linked to CHARGE syndrome.
It does make some sense to find that puberty disorders were found to be related to the gene CHD7, and that a relationship was found recently by Dr. Layman's team to Kallman syndrome, which appears as a milder form of CHARGE. When the nueral crest cells are forming, the hypothalamus is developed very early on. The pituitary gland does rely on the hypothalamus, especially when children begin to develop as teens, but the structural formation of this area begins early in the development of the fetus.
Going back to 2004, the research team at that time from the University of Nijnegen in Netharlands had isolated the possible gene for CHARGE syndrome. When discussing the initial finding with Conny VanRavenswaaij during the International Conference on CHARGE, she talked about doing further research to show possible corrective features of CHD7. The question was could variations in the clinical findings of each individual child with CHARGE be that the gene could make changes at the time the neural crest cells are forming, and thereby decrease the severity of clinical features expressed?
For aquatic animals, there is a link to Endocrine Disruptor Chemicals or EDC's to issues surrounding a lack of egg formation, inability to reproduce, and some actual physiological changes in the reproductive anatomy. In human populations, this new study defines a relationship to early genetic development. There could be a question in some minds if there is any affect that our environment could have on genes. If somehow there are corrective features in CHD7, could there be something that interfers with this process to cause the incidence of CHARGE syndrome identification to increase.
~ Ann Gloyn, Education Specialst
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