Endocrine Abstracts

Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement of 47,XXY, although occasionally patients may have multiple X or Y chromosomes, may be mosaic with 46, XY, 47,XXY or have an X-autosome translocation. We present the case of a 43 year old male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found on karyotype analysis to have an hitherto undescribed inversion o...