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Macroorchidism and fragile X in mentally retarded males

Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28)

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Summary

One hundred and seventy eight males resident in an institution for the mentally retarded were screened clinically for the presence of macroorchidism, using the standard orchidometer. In this way 52 males with a testicular volume of 25 ml and over were found. Of these, 11 had pronounced macroorchidism (above 25 ml). All 52 males were examined cytogenetically for the fragile X. Two patients with pronounced macroorchidism showed this abnormality. Although the other nine patients with pronounced macroorchidism were reexamined with FUdR-addition to blood cultures, no further cases positive for the fragile X were found. Also, the thyroid function as well as the prolactin level in serum were investigated in all 52 males. No significant abnormalities were found. The high incidence of macroorchidism in mentally retarded males is underlined; however, it is suggested that the definition of macroorchidism should take into account several parameters.

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References

  1. Boisen E (1979) Testicular size and shape of 47,XYY and 47,XXY men in a double blind, double-matched population survey. Am J Hum Genet 31:697–703

  2. Brown WT, Mezzacappa PM, Jenkins, EC (1981) Screening for fragile X syndrome by testicular size measurements. Lancet II:1055

  3. Cantú JM, Scaglia HE, Medina M, Gonzales-Diddi M, Morato T, Moreno ME, Perez-Palacios G (1976) Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum Genet 33:23–33

  4. Farkas LG (1976) Basic morphological data of external genitals in 177 healthy central European men. Am J Phys Anthropol 34:325–328

  5. Glover TW (1981) FUdR induction of the X chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition. Am J Hum Genet 33:234–242

  6. Hecht F, Jacky PB, Sutherland GR (1982) The fragile X chromosome: Current methods. Am J Med Genet 11:489–495

  7. Herbst DS, Dunn HG, Dill FJ, Kalousek DK, Krywaniuk LW (1981) Further delineation of X-linked mental retardation. Hum Genet 58:366–372

  8. Jacobs PA, Glover TW Mayer M, Fox P, Gerrard JW, Dunn HG, Herbst DS (1980) X-linked mental retardation: A study of 7 families, Am J Med Genet 7:471–489

  9. Jennings M, Hall JG, Hoehn H (1980) Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning Syndrome). Am J Med Genet 7:417–432

  10. Laron Z, Karp M, Dolberg L (1970) Juvenile hypothyroidism with testicular enlargement. Acta Paediatr Scand 59:317–322

  11. Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M (1981a) X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet 59:23–25

  12. Nielsen KB, Tommerup N, Dyggve HV, Schou C (1981b) Macroorchidism, mental retardation and the fragile X. N Engl J Med 305:1348

  13. Nielsen KB Dyggve HV, Knudsen H, Olsen J (to be published) A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies. Dan Med Bull

  14. Prader A (1966) Testicular size: Assessment and clinical importance. Triangle 7:240–243

  15. Roitman A, Assa S, Kauli R, Laron Z (1980) Prolactin deficiency, obesity and enlarged testes—a new syndrome? Arch Dis Child 55:647–649

  16. Shapiro LR, Wilmot PL, Brenholz P, Leff A, Martino M, Harris G, Mahoney MJ, Hobbins JC (1982) Prenatal diagnosis of fragile X chromosome. Lancet I:99

  17. Sutherland GR (1979a) Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 31:125–135

  18. Sutherland GR (1979b) Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet 53:23–27

  19. Sutherland GR, Ashforth PLC (1979) X-linked mental retardation with macroorchidism and the fragile site at Xq27 or 28. Hum Genet 48: 117–120

  20. Tommerup N, Nielsen KB, Mikkelsen M (1981) Marker X chromosome induction in fibroblasts by FUdR. Am J Med Genet 9:263–264

  21. Turner G, Till R, Daniel A (1978) Marker X chromosomes, mental retardation and macroorchidism. N Engl J Med 299:1472

  22. Turner G, Daniel A, Frost M (1980) X-linked mental retardation, macroorchidism and the Xq27 fragile site. J Pediatr 96:837–841

  23. Zachmann M, Prader A, Kind HP, Häfliger H, Budliger H (1974) Testicular volume during adolescence cross-sectional and longitudinal studies. Helv Paediatr Acta 29:61–72

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Correspondence to Karen Brøndum Nielsen.

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Nielsen, K.B., Tommerup, N., Dyggve, H.V. et al. Macroorchidism and fragile X in mentally retarded males. Hum Genet 61, 113–117 (1982). https://doi.org/10.1007/BF00274199

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Prolactin
  • Blood Culture
  • Thyroid Function