[XX-male-syndrome. Pathogenesis and aspects of diagnostic pitfalls (author's transl)].
A boy with XX-karyotype displayed classical features of Klinefelter's syndrome. In the nuclei of hair root cells Barr-bodies were present as well as brightly fluorescent (F-)bodies resembling closely a Y-body. In lymphocyte metaphases, however, this F-body of the interphase nuclei corresponded to a brightly fluorescent segment of the short arm of a D15-chromosome was found in the father's karyotype. This case does not give convincing support to any of the theories suggested in the etiology of the XX-male phenomenon.
D000293:Adolescent; D002875:Chromosomes / Q000032:analysis; D002901:Chromosomes, Human, 13-15; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D012734:Disorders of Sex Development / Q000175:diagnosis*; D006177:Gynecomastia; D006801:Humans; D007021:Hypospadias / Q000601:surgery; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis; D007985:Leydig Cells / Q000473:pathology; D008297:Male; D012728:Sex Chromatin / Q000032:analysis; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D013739:Testosterone / Q000097:blood; D014178:Translocation, Genetic
D013739:Testosterone
Das XX-Mann-Syndrom: Pathogenese und Beitrag zu den Fehlermöglichkeiten der Diagnose