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9 men with enlarged breasts scanty facialbody hair small testes and infertilityKlinefelter Syndrome I History A 1942 report published Klinefelter et al 9 men with enlarged breasts scanty facialbody 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 Mosaics 10 46XY47XXY fertility possible 46XY48XXXY and 47XXY48XXXY Remaining cases 48XXXY 48XXYY 49XXXYY 49XXXXY 1 structurally abnormal X addition to a normal XY C Trait received by autosomal recessive inheritance D Reciprocal X-Y interchange at paternal meiosis E Onset child born with condition diagnosis occurs in adulthood III Characteristics A Severity of symptoms is related to number of extra X chromosomes B Physical Enlarged breasts gynecomastia Fatigue weakness Erectile dysfunction Osteoporosis Subnormal libido Taller than average male long thin arms and legs Taurodontism enlarged molar teeth Sparse facialbody hair High-pitched voice Female-type fat distribution Small testes C Cognitive Mental retardation Developmental and learning disabilities academic problems delayed speech diminished short-term memory attention deficit disorder decreased data-retrieval skills dyslexia Behavioral problems and psychological distress due to poor self-esteem poor psychosocial development and decreased ability to deal with stress Psychiatric disorders anxiety depression neurosis psychosis D Potential consequences Infertility Risk of breast cancer is 20X greater than normal male Cardiaccirculatory problems mitral valve prolapse varicose veins venous ulcers deep vein thrombosis pulmonary embolism Increased frequency of extragonadal germ cell tumors IV Treatment 3 areas A Hypogonadism and Gynecomastia Androgen therapy testosterone replacement at puberty to correct androgen deficiency provide virilization and improve psychosocial status Regular testosterone injections to promote strength and hair growth build muscle increase libido enlarge size of testes
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