Genetics for the clinician / C.A. Clarke.

  • Clarke, Cyril A. (Cyril Astley)
Date:
1964
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Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Genetics for the clinician / C.A. Clarke. Source: Wellcome Collection.

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    2б GENETICS FOR THE CLINICIAN years oestrogens can be given to promote spurious menstruation. Further¬ more, a definite diagnosis also enables a prognosis of permanent infertility to be given with almost complete certainty. (b) Klinefelter's Syndrome The patients look and behave like males, and it is highly probable that a proportion of cases go through life without ever consulting a physician—particularly when there is no National Service, since it is the gynaecomastia which often attracts attention in messes. The facies is smooth, the voice is higher pitched than normal and the testes and prostate are small. Nevertheless erections can be obtained and ejaculations occur, though spermatozoa are never present and the fluid is derived from the prostate and accessory glands. Some patients are married and consum¬ mation can be legally effected. Though there is a liability to mental defect many patients have normal intelligence. The nuclear sex is usually chromatin positive, reflecting the chromosomal constitution XXY. A remarkable observation is that of Moore (1959) who reports an inci¬ dence of chromatin positive males at birth as high as about i in 400 live births (5 out of 1,911), and a finding of a similar order (i in 500) has been reported by Court Brown (1961). If the incidence of adult 'Klinefelters' is as high as this it would be of great interest to try and track them down. Many cases are social misfits and it would therefore be worth while investigating the chromosome complement in delinquents (Court Brown, 1961). Theoretically, if non-disjunction took place with equal frequency in male and female parents, if the zygotes were all equally viable and if there were no other cause for the two syndromes, one would expect equal numbers of Turner and Klinefelter cases. However, XO, partly on accovmt of congenital heart disease, is less viable than XXY and in fact there are many fewer Turner patients. Moore found none (anyhow who were XO) in 1,804 newborn babies who were apparently female. A clinician obtains quite a different idea of the incidence of the two abnormahties since the amenorrhœa of the Turner cases always brings the patient to a doctor whereas the disabihties of the Klinefelter very often do not. (c) Abnormal Female, XXX {Triple X) The surprising feature about these women is that they show very little physical abnormahty and are sometimes fertile. The first two cases reported had both menstruated, the first irregularly and the second quite normally. Although the second was mentally abnormal it is uncertain