Diagnostic Criteria, and Genetic Risks to Family Members/Counseling Definitive diagnosis of Klinefelter syndrome requires a cytogenic analysis of the patient in question. However, physical manifestations may play an important role in the diagnosis of an affected individual. Although physical manifestations of Klinefelter syndrome are extremely variable, there is a direct correlation between sev...

To complement the 2005 Annual Clinical Focus on medical genomics, AFP is publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. This review discusses Klinefelter syndrome.

Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variabil...

We herein report a case of infective endocarditis associated with mitral valve prolapse (MVP) in a 34-year-old man with Klinefelter syndrome. The patient was admitted with a fever and headache that had persisted for three weeks. Repeated blood cultures showed growth of Streptococcus oralis. Echocardiography demonstrated severe mitral regurgitation with a large vegetation attached to the prolaps...

Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement 47,XXY. We present a case of a male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found, on karyotype analysis, to have a hitherto undescribed inversion of the long arm of the X chromosome (46,Y,inv(X)(q12q25)). The underlying...

this report presents the cytogenetic findings (g -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. chromosomal aberrations were found in 63 116.5%) of these cases, free trisomy 21 (7%) being the most common abnormality , followed by 47, xxykaryotype (4%). the breakdown figures for each group is discussed in the text.

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.