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Patientforløbsbeskrivelse_Klinefelter_version_2021_11.01 Særlige forhold vedr. overgang fra barn til voksen Transitionsambulatorium (Børneafdeling H og Endokrinologisk Afdeling M), OUH. Genetisk rådgivning med henblik på information om arvegang og gentagelsessandsynlighed. OMIM-kode/Orphanet- OMIM: Ingen kode Orpha: 484 Udvalgt litteratur Advances in the interdisciplinary care of children with Klinefelter syndrome Adv. Pediatr. 2016; 63(1):15-46 Forskning (Egen /samarbejdspartnere) Ma n a g emen t-o f -ca r d io va scu la r-co mp lica Gravholt CH, Chang S, Wallentin M, Fedder J , Moore P, Skakkebæk A: Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology. Endocrine Reviews 2018; 39: 389-423. Vedr. metabolisme hos KS mænd: Bojesen A, Kristensen K, Birkebaek N, Fedder J , Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt C: The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care 2006; 29: 1591-8. Vedr. cardiologi hos KS mænd: Andersen NH, Bojesen A, Kristensen K, Birkebaek N, Fedder J , Bennett P, Christiansen JS, Gravholt CH: Left ventricular dysfunction in Klinefelter syndrome is associated to insulin resistance, abdominal adiposity and hypogonadism. Clinical Endocrinology 2008; 69: 785-91. 4

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Patientforløbsbeskrivelse_Klinefelter_version_2021_11.01 Vedr. neuroanatomi, -fysiologi og –psykologi hos KS mænd: Skakkebæk A, Gravholt CH, Rasmussen PM, Bojesen A, Jensen JS, Fedder J , Laurberg P, Hertz JM, Østergaard JR, Pedersen AD, Wallentin M: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. NeuroImage: Clinical 2014; 4: 1-9. Skakkebæk A, Bojesen A, Kristensen MK, Cohen A, Hougaard DM, Hertz JM, Fedder J , Laurberg P, Wallentin M, Østergaard JR, Pedersen AD, Erlandsen M, Gravholt CH: Neuropsychology and brain morphology in Klinefelter syndrome – the impacts of genetics. Andrology 2014; 2: 632-40. Wallentin M, Skakkebæk A, Bojesen A, Fedder J , Laurberg P, Østergaard JR, Hertz JM, Pedersen AD, Gravholt CH: Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation. NeuroImage: Clinical 2016, 11: 239-51. Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J , Laurberg P, Hertz JM, Østergaard JR, Wallentin M, Gravholt CH: The role of genes, intelligence, personality and social engagement in cognitive performance in Klinefelter patients. Brain and Behaviour 2017; 7: e00645 (11 pages, online tidsskrift). Skakkebæk A, Moore PJ, Chang S, Fedder J , Gravholt CH: Quality of life in men with Klinefelter syndrome: The impact of genotype, health, socioeconomics and sexual function. Genetics in Medicine 2018; 20: 214-22. Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J , Hertz JM, Østergaard JR, Wallemtin M, Gravholt CH: Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement. Publishing Library of Science.one 2018; 13: e0206932 (11 pages). Vedr. fertilitet hos KS mænd: Crüger D, Toft B, Agerholm I, Fedder J , Hald F, Bruun Petersen G: Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter’s syndrome. Human Reproduction 2001; 16: 1909-11. 5

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