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South Med J. 1986 Sep;79(9):1089-93.

Klinefelter's syndrome: historical background and development.

Abstract

When described more than 40 years ago, Klinefelter's syndrome (small testes, sterility, increased excretion of follicle-stimulating hormone, and usually gynecomastia) was thought to be an endocrine disorder. A second testicular hormone was postulated but has never been isolated. During the ensuing years, the syndrome has been found to be a chromosomal disorder, in which there is an extra X chromosome in 80% of the patients. The disorder occurs once in 500 to 1,000 male births and is best diagnosed by a buccal smear. When there is androgen deficiency, it is treated with testosterone. Gynecomastia is treated surgically because of the potential danger of malignancy or for cosmetic reasons.

PMID:
3529433
[PubMed - indexed for MEDLINE]
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