Klinefelter Syndrome Essay, Research Paper

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

Mosaics (10%): 46,XY/47,XXY (fertility possible); 46,XY/48,XXXY; and 47,XXY/48,XXXY

Remaining cases: 48,XXXY; 48XXYY; 49,XXXYY; 49,XXXXY

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 facial/body 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

Cardiac/circulatory 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, 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