GTS5:Klinefelter syndrome: Difference between revisions

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 ==Definition/Description of Disease==
 Klinefelter syndrome (KS) is a genetic condition affecting males and results from the presence of an extra X chromosome (47,XXY). KS can lead to a range of physical, developmental and reproductive issues, including tall stature, reduced muscle mass, gynecomastia, small testes, infertility, azoospermia and learning difficulties.<ref>{{Cite journal|last=Bearelly|first=Priyanka|last2=Oates|first2=Robert|date=2019|title=Recent advances in managing and understanding Klinefelter syndrome|url=https://pubmed.ncbi.nlm.nih.gov/30755791|journal=F1000Research|volume=8|pages=F1000 Faculty Rev–112|doi=10.12688/f1000research.16747.1|issn=2046-1402|pmc=6352920|pmid=30755791}}</ref> There is a high incidence of symptom variability, and many individuals remain undiagnosed. KS should be suspected in adolescence in males with incomplete or delayed puberty, eunuchoid body habitus (disproportionately long arms and legs), gynecomastia, small and firm testes, low muscle mass, and psychosocial difficulties, and in adults with primary hypogonadism (small testes, low testosterone, high FSH/LH), azoospermia, reduced libido or erectile dysfunction, osteoporosis, and mild cognitive or language difficulties.<ref>{{Cite journal|last=Bojesen|first=Anders|last2=Gravholt|first2=Claus H.|date=2007-04|title=Klinefelter syndrome in clinical practice|url=https://pubmed.ncbi.nlm.nih.gov/17415352|journal=Nature Clinical Practice. Urology|volume=4|issue=4|pages=192–204|doi=10.1038/ncpuro0775|issn=1743-4289|pmid=17415352}}</ref><ref name=":0">{{Cite journal|last=Groth|first=Kristian A.|last2=Skakkebæk|first2=Anne|last3=Høst|first3=Christian|last4=Gravholt|first4=Claus Højbjerg|last5=Bojesen|first5=Anders|date=2013-01|title=Clinical review: Klinefelter syndrome--a clinical update|url=https://pubmed.ncbi.nlm.nih.gov/23118429|journal=The Journal of Clinical Endocrinology and Metabolism|volume=98|issue=1|pages=20–30|doi=10.1210/jc.2012-2382|issn=1945-7197|pmid=23118429}}</ref>
-The majority of patients (~80%) with KS are 47,XXY by chromosome analysis, with the remainder being 48,XXXY, 48,XXYY, 49,XXXXY, or mosaic with a normal male cell line.<ref>{{Cite journal|last=Tangshewinsirikul|first=Chayada|last2=Dulyaphat|first2=Wirada|last3=Tim-Aroon|first3=Thipwimol|last4=Parinayok|first4=Rachanee|last5=Chareonsirisuthigul|first5=Takol|last6=Korkiatsakul|first6=Veerawat|last7=Waisayarat|first7=Jariya|last8=Sirisreetreerux|first8=Pokket|last9=Tingthanatikul|first9=Yada|date=2020-12|title=Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review|url=https://pubmed.ncbi.nlm.nih.gov/32733741|journal=Journal of Pediatric Genetics|volume=9|issue=4|pages=221–226|doi=10.1055/s-0040-1713002|issn=2146-4596|pmc=7384885|pmid=32733741}}</ref>
+The majority of patients (~80%-90%) with KS are 47,XXY by chromosome analysis, with the remainder being 48,XXXY, 48,XXYY, 49,XXXXY, or mosaic with a normal cell line.<ref>{{Cite journal|last=Tangshewinsirikul|first=Chayada|last2=Dulyaphat|first2=Wirada|last3=Tim-Aroon|first3=Thipwimol|last4=Parinayok|first4=Rachanee|last5=Chareonsirisuthigul|first5=Takol|last6=Korkiatsakul|first6=Veerawat|last7=Waisayarat|first7=Jariya|last8=Sirisreetreerux|first8=Pokket|last9=Tingthanatikul|first9=Yada|date=2020-12|title=Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review|url=https://pubmed.ncbi.nlm.nih.gov/32733741|journal=Journal of Pediatric Genetics|volume=9|issue=4|pages=221–226|doi=10.1055/s-0040-1713002|issn=2146-4596|pmc=7384885|pmid=32733741}}</ref><ref>{{Cite journal|last=Bearelly|first=Priyanka|last2=Oates|first2=Robert|date=2019|title=Recent advances in managing and understanding Klinefelter syndrome|url=https://pubmed.ncbi.nlm.nih.gov/30755791|journal=F1000Research|volume=8|pages=F1000 Faculty Rev–112|doi=10.12688/f1000research.16747.1|issn=2046-1402|pmc=6352920|pmid=30755791}}</ref> While the majority of mosaic KS patients have a normal male cell line, individuals with a normal female karyotype have also been described. Mosaic individuals typically present with a more variability clinical phenotype, and are often diagnosed due to infertility.<ref>{{Cite journal|last=Samplaski|first=Mary K.|last2=Lo|first2=Kirk C.|last3=Grober|first3=Ethan D.|last4=Millar|first4=Adam|last5=Dimitromanolakis|first5=Apostolos|last6=Jarvi|first6=Keith A.|date=2014-04|title=Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients|url=https://pubmed.ncbi.nlm.nih.gov/24502895|journal=Fertility and Sterility|volume=101|issue=4|pages=950–955|doi=10.1016/j.fertnstert.2013.12.051|issn=1556-5653|pmid=24502895}}</ref> Individuals with a normal female cell line may have ambiguous genitalia and the presence of ovotestes.<ref>{{Cite journal|last=Guess|first=Tiffany|last2=Wheeler|first2=Ferrin C.|last3=Yenamandra|first3=Ashwini|last4=Schilit|first4=Samantha L. P.|last5=Anderson|first5=Hannah S.|last6=Bone|first6=Kathleen M.|last7=Carstens|first7=Billie|last8=Conlin|first8=Laura|last9=Dulik|first9=Matthew C.|date=2024-10|title=A multicenter analysis of individuals with a 47,XXY/46,XX karyotype|url=https://pubmed.ncbi.nlm.nih.gov/39011769|journal=Genetics in Medicine: Official Journal of the American College of Medical Genetics|volume=26|issue=10|pages=101212|doi=10.1016/j.gim.2024.101212|issn=1530-0366|pmid=39011769}}</ref>
 [[File:47,XXY.png|center|thumb|G-banded chromosome analysis of a PHA-stimulated peripheral blood specimen from a patient with Klinefelter Syndrome and a 47,XXY karyotype; Courtesy of Wisconsin Diagnostics Laboratories]]
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