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PMID: 6215327 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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).

Human genetics ·Vol. 61 ·No. 2 ·1982-00-00 ·Pages 113-7

Nielsen KB, Tommerup N, Dyggve HV, Schou C

Abstract

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.

MeSH Terms
Adult Aged Birth Weight Body Height Body Weight Chromosome Banding Chromosome Mapping Electroencephalography Female Floxuridine Fragile X Syndrome/genetics Humans Male Middle Aged Prolactin/blood Sex Chromosome Aberrations/genetics Testis/abnormalities,anatomy & histology X Chromosome/ultrastructure
Chemicals
Floxuridine Prolactin
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Nielsen K B
Tommerup N
Dyggve H V
Schou C
References (22)
22 references, click to expand
  1. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.
    Hum Genet. 1981;59(1):23-5 PMID: 10819017
  2. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
    J Pediatr. 1980 May;96(5):837-41 PMID: 7189210
  3. Inherited congenital normofunctional testicular hyperplasia and mental deficiency.
    Hum Genet. 1976 Jul 7;33(1):23-33 PMID: 939556
  4. Testicular size: assessment and clinical importance.
    Triangle. 1966;7(6):240-3 PMID: 5920758
  5. FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.
    Am J Hum Genet. 1981 Mar;33(2):234-42 PMID: 6452060
  6. Further delineation of X-linked mental retardation.
    Hum Genet. 1981;58(4):366-72 PMID: 6948768
  7. Testicular size and shape of 47,XYY and 47,XXY men in a double-blind, double-matched population survey.
    Am J Hum Genet. 1979 Nov;31(6):697-703 PMID: 517519
  8. Screening for fragile X syndrome by testicular size measurement.
    Lancet. 1981 Nov 7;2(8254):1055 PMID: 6118515
  9. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).
    Am J Med Genet. 1980;7(4):417-32 PMID: 6938131
  10. Juvenile hypothyroidism with testicular enlargement.
    Acta Paediatr Scand. 1970 May;59(3):317-22 PMID: 5424440
  11. The fragile X chromosome: current methods.
    Am J Med Genet. 1982 Apr;11(4):489-95 PMID: 6211983
  12. Marker X chromosome induction in fibroblasts by FUdR.
    Am J Med Genet. 1981;9(3):263-4 PMID: 6456666
  13. Macroorchidism, mental retardation, and the fragile X.
    N Engl J Med. 1981 Nov 26;305(22):1348 PMID: 7197323
  14. Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
    Am J Hum Genet. 1979 Mar;31(2):125-35 PMID: 36752
  15. Testicular volume during adolescence. Cross-sectional and longitudinal studies.
    Helv Paediatr Acta. 1974 Apr;29(1):61-72 PMID: 4838166
  16. X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28.
    Hum Genet. 1979 Apr 17;48(1):117-20 PMID: 572332
  17. 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. 1983 Feb;30(1):5-13 PMID: 6831943
  18. Basic morphological data of external genitals in 177 healthy Central European men.
    Am J Phys Anthropol. 1971 May;34(3):325-8 PMID: 5120549
  19. X-linked mental retardation: a study of 7 families.
    Am J Med Genet. 1980;7(4):471-89 PMID: 7211957
  20. 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. 1979;53(1):23-7 PMID: 535898
  21. Prolactin deficiency, obesity, and enlarged testes--a new syndrome?
    Arch Dis Child. 1980 Aug;55(8):647-9 PMID: 7436524
  22. Marker X chromosomes, mental retardation and macro-orchidism.
    N Engl J Med. 1978 Dec 28;299(26):1472 PMID: 714140
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00274199
Published
1982-00-00
Pages
113-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00274199 View journal details
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