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Kallmann Syndrome |
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Symptoms,
Prognosis, and Onset |
Summary Kallmann Syndrome was first diagnosed in 1944 by Franz Josef
Kallmann, a German-American geneticist. However, a correlation between
the disease and infected patients was noticed in 1856, by Aureliano Maestre
de San Juan, a Spanish doctor. Kallmann Syndrome is ahypogonadism, a
disease which occurrences change the function of sex hormone glands.
It’s caused by a deficiency of the gonadotropin hormone, known as GnRH.
It can be classified as a hypothalamic hypogonadism, which is responsible for
anosmia and other symptoms. Kallmann Syndrome occurs uncommonly, but
many recognizable figures have been infected by it. Most notable, in
modern times, Jimmy Scott, a renowned jazz vocalist, is infected by it. The inheritance of Kallmann Syndrome is an X-linked recessive
pattern of inheritance. The KAL1 gene is located on the X
chromosome-simplex- meaning that only one person in a family is affected by
the disease. The gene that is affected is located and mapped on
chromosome Xp22.3. Affected
Protein The KAL 1 gene is involved with encoding a natural cell
adhesion molecule, anosmin. Anosmin is often expressed in the brain,
the facial mesenchyme, the mesonephros, and the metanephros. It
promotes the migration of gonadotropin hormones, GnRH, into the
hypothalamus. Anosmin is a kilodalton, as it’s expressed on the outside
of cells. This results in normal migration of nerve cells, allowing
extracellular matrix to be postulated.
http://www.medecinesciences.org/reserve/revues/ms_papier/e-docs/00/00/05/B0/document_article.md
This
is what a person with Kallmann syndrome would look like through an MRI scan. http://emedicine.medscape.com/article/122824-overview
http://www.medstudents.com.br/endoc/endoc1.htm http://www.tylermedicalclinic.com/kallman%20syndrome.htm
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=kms OMIM DNA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308700 Kallmann Syndrome on
OMIM http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim OMIM
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