Klinefelter syndrome

9 men with enlarged breasts, scanty facial/body hair, small testes, and infertilityKlinefelter Syndrome I. History A. 1942, report published Klinefelter et al „« 9 men with enlarged breasts, scanty facial/body hair, small testes, and infertility B. 1959, condition named Klinefelter syndrome „« Men had extra sex chromosome (XXY), instead of XY C. Klinefelter is most common male chromosomal disorder linked to infertility and hypogonadism (small testes) II. Genetic information A. Typical karyotype: 47, XXY (80-90% patients) B. Variants to karyotype „« …

…muscle, increase libido, enlarge size of testes, improve overall mood and self-image, prevent osteoporosis „« Mastectomy to correct gynecomastia, reduce risk of breast cancer, and improve self-image B. Psychosocial problems „« Multidisciplinary team approach to work on speech impairments, academic difficulties, and other behavioral/psychosocial problems V. Miscellaneous A. Frequency: 1/500-1000 males B. Mortality: 40% males survive fetal period, normal life expectancy No racial predilection exists9 men with enlarged breasts, scanty facial/body hair, small testes, and infertility