Human cytogenetics / John L. Hamerton.

  • John Laurence Hamerton
Date:
1971
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Human cytogenetics / John L. Hamerton. Source: Wellcome Collection.

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    Chapter 1 ABNORMAL SEX CHROMOSOME COMPLEMENTS IN THE MALE I. Klinefelter's Syndrome and Variants Klinefelter and his colleagues (1942) described a characteristic syn¬ drome in nine male patients who had gynecomastia and a specific form of hypogonadism comprising small testes with hyalinized seminiferous tubules and absent spermatogenesis but with intact Leydig cells. The urinary gonadotrophins were increased to a level comparable with that found in castrates, but there was no increase in estrogen production. A normal or increased 17-ketosteroid production with either normal or subnormal development of the secondary sexual characteristics was also noted. The breast tissue showed marked hyperplasia of ducts and prolif¬ eration of interstitial connective tissue. This syndrome is now well established in clinical practice and con¬ tributes significantly to infertility in the male. Nelson and Heller (1945) and Heller and Nelson (1945) have shown that neither gynecomastia nor eunuchoidism need necessarily be observed and that the most out¬ standing feature is the presence of small testes with generally hyalinized tubules (Ferguson-Smith et al., 1957). The small size of the testes is generally detected first at puberty when they fail to enlarge. Polani (1962) has stated that gynecomastia is more obvious in the more sthenic subjects but that a slender body build is commonly asso¬ ciated with eunuchoid bodily proportions and narrow shoulders. There is frequently poor androgenic response, lack of secondary sexual charac- 1