XO MOSAICISM

XO MOSAICISM

54 DOMICILIARY MANAGEMENT OF THE SUBNORMAL CHILD SIR,-When discussing help for parents of young subnormal children, something intensive enough to be ...

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54 DOMICILIARY MANAGEMENT OF THE SUBNORMAL CHILD SIR,-When discussing help for parents of young

subnormal children, something intensive enough to be a substitute for hospital care is required. This may mean daily visiting to help bathe, clean, and look

patient, and help in minding and/or taking out for airings. Regular frequent discussions with someone who understands the intimate problems of bringing up a severely subnormal child are another support for the mother. Frequent sessions with the family doctor, consultant, or local-authority doctor are also necessary. Help with laundering or housing may be

after the

this type of mosaicism, from gonadal dysgenesis 26 or true hermaphrodism 3in phenotypical females to male

pseudohermaphrodism 1 8 and simple cryptorchidism. The above example illustrates the point that surgeons ought to be encouraged in performing biopsies and asking for tissue cultures every time they operate on an undescended gonad. Institut de Génétique Médicale and

Clinique Thérapeutique, Faculté Médecine, Geneve, Switzerland.

de

PIERRE FERRIER SIMONE FERRIER DAVID KLEIN CLAUDE FERNEX.

necessary.

intensifying of support to the parents is an alternative to hospital, rather than a palliative in a situation that is emotionally and personally trying for parents. The absence of this kind of This

URICOSURIC TREATMENT IN ANGINA PECTORIS

Sirread Dr. Eidlitz’ letter9 with great interest. About three years ago two men with whom I was well acquainted, both of them under 50, died from acute myocardial infarction. They both had, for some years, been taking colchicine for gout. Shortly after their deaths I had uric-acid blood-levels done on some of my patients who had angina pectoris, and found that about 12 or 14 of them, out of a total of about 22, had uric-acid levels that were elevated. I placed these patients on probenecid 0-5 g. daily and found a decrease in the amount of nitroglycerin needed, or no need for the nitroglycerin at all. On one patient with intractable angina, whom I saw on an emergency basis (he was not my patient), I noted what appeared to be tophi on his ears. I gave him MOSAICISM XX/XO 2 mg. of colchicine intravenously, and within two minutes of SIR,-In connection with the discussion on phenotype the injection he was free of pain. of XY/XO human mosaics,l-4 we wish to record the In present-day literature on gout, it seems that all attention following case. is drawn to the joints and to the precipitation of urate deposits A 35-year-old man, married for 5 years, consulted for in the kidneys, skin, &c. It is my feeling that gout is a far more sterility. Two sperm-counts had been totally negative. At generalised disease. For instance, I find no mention in the the age of 5, an orchidopexy had been performed on the right present-day literature of muscular cramps which can occur undescended testis. No biopsy had been taken. Puberty long before the classic acute gouty attack. If memory serves occurred normally at 14. The man was of superior intelligence. me correctly, in the older texts one will find mention of muscle His height was 173 cm., his weight 61 3 kg. (135-1 lb.). The cramps in gout under the name " crampus nervosa ". I have treated one case of intractable headache, in a young general appearance was typically male, with a well-developed musculature, and absence of obesity or gynaecomasty. Body- man, which has responded to probenecid. His uric-acid level, hair growth had a male pattern. The penis was entirely normal. 8-2 mg. per 100 ml. prior to probenecid, has since dropped to The right testis was palpable in the scrotum and very small. 5-8 mg. per 100 ml. The January, 1962, issue of Circulation The left testis, smaller than average but larger than the right contains a report from the Mayo Clinic on the autopsy deaths Section revealed lack of was of complete gonad, biopsied. permanent residents of Rochester, Minnesota, over a period of about five years. It is interesting to note that in the coronary spermatogenes, and hyalinosis of the tubular membranes. deaths of people 50 years of age or younger there is roughly Sertoli cells were present, and Leydic cells were very numerous. 17-ketosteroid excretion was 14-4 mg. per 24 hours, and the same sex-distribution as is in clinical gout. I feel that careful history-taking will reveal that the gout gonadotrophins, 210 H.M.G.U. per 24 hours (normal adult male, 15::1:: 10 H.M.G.U. per 24 hours). Buccal smear showed a patient has suffered with many vague muscular aches, headaches, &c., prior to the onset of clinical gout. From experience, negative chromatin pattern. Cultures of peripheral leucocytes5 revealed a 46 XY/45 XO I have noted that people with these vague aches associated with uric-acid blood-level elevation have responded well to colchicine chromosomal mosaicism. Fifty technically satisfactory cells were counted. The following distribution was found: intravenously as initial treatment and probenecid daily. I have 45 46 47 also noted that a number of patients with diagnosed gout have No. of chromosomes ........ 44 22 1 No. of cells 2 25 had bleeding peptic ulcers. I do not suggest by this a cause 15 karotypes were established, 9 with 46 and 6 with 45 chromoand effect relationship. However, it would be of interest to do somes. uric-acid blood-levels on ulcer patients, and, if the uric-acid level is high, to see how they would do with probenecid daily. It is unfortunate that the right gonad was not biopsied, for true hermaphrodism, or at least presence of " ovarian I wonder whether this disease entity, which we call stroma ", cannot be excluded. We wish to point out, gout, is not a far more serious illness than has been prehowever, that the phenotype here was entirely male, viously thought. I raise the question whether this even more so than in the case of the individual with metabolic defect (which I believe is far more widespread hypospadias described by De La Chapelle and Hortling.4 than is at present recognised) is not a generalised illness There is now good evidence from the literature that all whose symptoms are protean and which may indeed cause of aberrant sexual be with seen cardiac death without ever having caused the classical degrees development may

service is not in any way a criticism of the available mentalhealth and general-practitioner services. What is needed is an intensive mental-health policy that could act as a real alternative to hospital for the severely subnormal young child. This seems to be particularly needed, in view of the subnormal young and not-so-young child requiring an intimate emotional relationship with an adult to prevent early development of a deprivation syndrome. Moreover, any expenditure up to the cost of hospital care would still benefit the Exchequer. Pewsey Hospital, V. L. KAHAN. Pewsey, Wilts. ,

Willemse, C. H., Van Brink, J. M., Los, P. L. Lancet, 1962, i, 488. Judge, D. L. C., Thompson, J. S., Wilson, D. R., Thompson, M. W. ibid. 1962, ii, 406. 3. Miller, O. J., Breg, R., Jailer, J. W. Quoted by Willemse et al. (footnote 1). 4. De La Chapelle, A., Hortling, H. ibid. 1962, ii, 783. 5. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A. Exp. Cell. Res. 1960, 20, 613. 1. 2.

Jacobs, P. A., Harnden, D. G., Buckton, K. E., Court Brown, W. M., King, M. J., McBride, J. A., MacGregor, T. N., MacLean, N. Lancet, 1961, i,1183. 7. Hirschhorn, K., Decker, W. H., Cooper, H. L. New Engl. J. Med. 1960, 263, 1044. 8. Ferrier, P., Gartler, S. M., Waxman, S. H., Shepard, T. H. Pediatrics, 1962, 29, 703. 9. Eidlitz, M. Lancet, 1962, ii, 1118.

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