Klinefelters syndrom
Sist revidert:
Sist revidert av:Terje Johannessen
Definisjon:
Kromosomavvik, som regel 47 XXY. Tilstanden gir testikkelsvikt og påvirker ofte intelligens og sosial fungering
Forekomst:
Vanligste form for mannlig hypogonadisme. 1 pr. 660 levendefødte gutter, dvs. at omtrent 45 gutter fødes med tilstanden årlig i Norge
Symptomer:
Puberteten kommer til normal tid, redusert libido, infertilitet
Funn:
Små testikler, 85% har gynekomasti ved puberteten, redusert kroppsbehåring, særlig uttalt for aksille- og kjønnsbehåring og skjeggvekst, redusert muskelmasse, som regel normal penis
Diagnostikk:
FSH, LH, s-testosteron, SHBG (Sex Hormone Binding Globulin), prolaktin. Kromosomprøve
Behandling:
Testosteronsubstitusjon gir mer normal kjønnsutvikling, vil ikke hjelpe mot infertilitet eller atferd/ interaksjonsproblemer
Frambu er kompetansesenter for tilstanden
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- Terje Johannessen, professor i allmennmedisin, Trondheim
Tidligere fagmedarbeidere
- Kurt Østhuus Krogh, spesialist i barnesykdommer, St. Olavs Hospital
- Truls E. Bjerklund Johansen, prof. dr. med., Urologisk afdeling, Århus Universitetshospital, 8200 Århus, DK