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Kallmann syndrome

Kallmann syndrome . By CJ. What is KS?. Kallmann syndrome is an issue with the endocrine system, more exactly inside the pituitary gland

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Kallmann syndrome

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  1. Kallmann syndrome By CJ

  2. What is KS? Kallmann syndrome is an issue with the endocrine system, more exactly inside the pituitary gland Very low amounts of Luteinizing hormone(LH) and Follicle stimulating hormone(FSH) causing the genitals to not make the proper sex hormones to start puberty(hypogonadism)

  3. Problems With KS Geneticists are having trouble mapping the mutated genes associated with KS Up to 6 different types of mutated genes have been found

  4. Why? (the genetics of it) Males Females • Disease is found on the X chromosome (since there is only one rule of dominance is not at play) • Pinpointed as a mutation in 1 of many genes (KAL1, FGFR1, PROKR2, PROK2, CHD7,FGF8) The ones listed only account for 30% of all KS cases • True heredity unknown due to unknown true amount of associated Loci • X passed mutated KAL1 is recessive • Pinpointed as a mutation in 1 of many genes (KAL1, FGFR1, PROKR2, PROK2, CHD7,FGF8) The ones listed only account for 30% of all KS cases • True heredity unknown due to unknown true amount of associated Loci

  5. Genetics cont. The change in genetic code makes the pituitary gland unable to make the proper signal hormone (GnRH) Lack of GnRH is associated with anosmia and Hypogonadism

  6. Signs and Symptoms Male Female • Abysmal or nonexistent genital growth • Lack of facial or pubic hair • No change in voice • Stunted growth • Lack of or incomplete puberty • Anosmia • Bimanual Synkinesis(RARE) • No Brest growth • Lack of menstrual cycle • No pubic or facial hair • No change in voice • Stunted growth • Lack of or incomplete puberty • Anosmia • Bimanual Synkinesis(RARE)

  7. Diagnosis Karyotype- to rule out chromosomal disorders with similar traits( Klienfelters, Turner syndrome) Endocrine work up- testing blood and tissue for proper endocrine levels Smell test for anosmia Chronological bone test- using chronological bone age in comparison to real age to see if puberty is delayed

  8. History Discovered as a link between anosmia(can’t smell) and hypogonadotropic hypogonadism(HH) by Franz Josef Kallmann(German American geneticist) in 1944(

  9. Treatment/Prognosis Since KS is easily to detect (anosmia, lack of puberty) a doctor can begin a patient on Hormonal therapy The “jump start” of testosterone or progesterone/estrogen lets the person begin a normal growth cycle The person should expect lifelong hormonal treatment and should live a normal life if treated early enough(except for not being able to smell!)

  10. http://www.youtube.com/watch?v=2hjRFIYb0rU

  11. bib "Kallmann Syndrome." Hypogonadotropic Hypogonadism. Ed. ShehzadShehzadTopiwala. U.S. National Library of Medicine, 8 Aug. 2012. Web. 18 Nov. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001427/>. Pallais, J. Carl. "Summary." Kallmann Syndrome. U.S. National Library of Medicine, 23 May 2007. Web. 18 Nov. 2012. <http://www.ncbi.nlm.nih.gov/books/NBK1334/>.

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