Klinefelter Syndrome Santina King

Researched and developed by Dr. Harry Klinefelter - father of endocrinology Klinefelter syndrome is the occurrence of an extra X chromosome found in males. Rather than having the normal XY they have XXY. It affects 1 in 500 males and it is one of the most common chromosome abnormalities found in men Facts about klinefelter syndrome.

When is it Diagnosed Normal birth with normal birth features make it hard to diagnose as a baby Usually diagnosed in adolescents, and can sometimes go years before diagnosed Diagnosed through a series of test physical examination chromosome analysis blood tests semen examination meiosis I accounts for 53% of cases, and maternal non-disjunction in meiosis I accounts for 34% of cases. The remainder of cases occur in meiosis II. 15% of people with Klinefelter syndrome are 47,XXY/46,XY mosaics. (science creative)

Physical Development –Late physical muscle mechanics –Height –Weak muscles –Coordination Language Development –Basic speaking –Expression of problems –Reading –Processing Social Development –Quiet –Isolated –Trouble fitting in symptoms

What causes it to happen One parent carries an extra X chromosome During meiosis the chromosomes fail to separate during the beginning phases. This leads to an extra X chromosome

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Risks and Affects Higher Risk For autoimmune disorders, including type II diabetes and thyroiditis hypothyroidism breast cancer osteoporosis leg ulcers depression dental problems Likely Effects Infertile delayed speech gross and fine motor delays sensory integration difficulties, including sensitivity to noise hypotonia or low muscle tone attention deficits auditory processing problems language-based learning disabilities, including reading difficulties social skill deficits anxiety self-esteem issues depression gynecomastia or swelling of breast tissue during puberty

Helpful ways to eliminate problems Speech and language therapy Counseling Taking Testosterone supplements – to improve bone density, and stimulate masculine development Diagnosing early will help minimize language problems, reading disorders, and other learning disabilities

Groups making a difference NHGRI Clinical Research on Klinefelter SyndromeNHGRI Clinical Research on Klinefelter Syndrome AAKSIS- The American Association for Klinefelter Syndrome Information and SupportAAKSIS- The American Association for Klinefelter Syndrome Information and Support KS&A- Knowledge Support & Action NICHD – National institute of child health and human developmentNICHD – National institute of child health and human development

Further developments Advances have been made with testicular sperm extraction with invetro to help reproduction Tests are available before child birth to detect this chromosome abnormality People are researching new medicines and cures for this syndrome

Works Cited Romanuik, Tammy L. "GENETICS OF SEX AND GENDER IDENTITY." The Science Creative Quarterly. Mar July "Learning About Klinefelter Syndrome." National Human Genome Research Institute. Fall National Institute of Health. 30 July "A Guide to Klinefelter Syndrome." American Association for Klinefelter Syndrome Information & Support. Fall July 2007 < Klinefelter_Brochure_.pdf>. "Klinefelter Syndrome." National Institute of Child Health and Human Development. Mar.-Apr July 2007.