Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1988 Jul;43(1):4–13.

XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.

M Ramsay 1, R Bernstein 1, E Zwane 1, D C Page 1, T Jenkins 1
PMCID: PMC1715282  PMID: 3163890

Abstract

A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiology could be identified. Pedigree analysis excluded the presence of a simple inheritance pattern, and no constant environmental factors could be implicated. Hybridization studies with Y chromosome--specific probes (pDP132, pDP61, pDP105, pDP31, pDP97, and pY431-HinfA) excluded the presence of a large portion of Yp in these patients. It is possible that smaller portions of the Y chromosome or one or more X-linked or autosomal mutations, either interacting and/or with incomplete penetrance, are present.

Full text

PDF
13

Images in this article

9Figure 2
on p.9

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Affara N. A., Ferguson-Smith M. A., Tolmie J., Kwok K., Mitchell M., Jamieson D., Cooke A., Florentin L. Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res. 1986 Jul 11;14(13):5375–5387. doi: 10.1093/nar/14.13.5375. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Andersson M., Page D. C., de la Chapelle A. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science. 1986 Aug 15;233(4765):786–788. doi: 10.1126/science.3738510. [DOI] [PubMed] [Google Scholar]
  3. Buckle V. J., Boyd Y., Fraser N., Goodfellow P. N., Goodfellow P. J., Wolfe J., Craig I. W. Localisation of Y chromosome sequences in normal and 'XX' males. J Med Genet. 1987 Apr;24(4):197–203. doi: 10.1136/jmg.24.4.197. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Davies K. E., Pearson P. L., Harper P. S., Murray J. M., O'Brien T., Sarfarazi M., Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 1983 Apr 25;11(8):2303–2312. doi: 10.1093/nar/11.8.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Dinner M. Intersex: a review and report of experience at Baragwanath hospital. S Afr J Surg. 1969 Apr-Jun;7(2):49–60. [PubMed] [Google Scholar]
  6. Donahoe P. K., Crawford J. D., Hendren W. H. True hermaphroditism: a clinical description and a proposed function for the long arm of the Y chromosome. J Pediatr Surg. 1978 Jun;13(3):293–301. doi: 10.1016/s0022-3468(78)80403-5. [DOI] [PubMed] [Google Scholar]
  7. Ehrhardt A. A., Meyer-Bahlburg H. F. Effects of prenatal sex hormones on gender-related behavior. Science. 1981 Mar 20;211(4488):1312–1318. doi: 10.1126/science.7209510. [DOI] [PubMed] [Google Scholar]
  8. Ferguson-Smith M. A. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet. 1966 Aug 27;2(7461):475–476. doi: 10.1016/s0140-6736(66)92778-4. [DOI] [PubMed] [Google Scholar]
  9. Geldwerth D., Bishop C., Guellaën G., Koenig M., Vergnaud G., Mandel J. L., Weissenbach J. Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J. 1985 Jul;4(7):1739–1743. doi: 10.1002/j.1460-2075.1985.tb03844.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Grace H. J., Edge W. E. A white hermaphrodite in South Africa. S Afr Med J. 1973 Sep 1;47(34):1553–1554. [PubMed] [Google Scholar]
  11. Grace H. J., Schonland M. Penile urethra in a Bantu female intersex. S Afr Med J. 1970 Oct 3;44(39):1112–1115. [PubMed] [Google Scholar]
  12. Guellaen G., Casanova M., Bishop C., Geldwerth D., Andre G., Fellous M., Weissenbach J. Human XX males with Y single-copy DNA fragments. Nature. 1984 Jan 12;307(5947):172–173. doi: 10.1038/307172a0. [DOI] [PubMed] [Google Scholar]
  13. KLEMPMAN S. THE INVESTIGATION OF DEVELOPMENTAL SEXUAL ABNORMALITIES. S Afr Med J. 1964 Apr 11;38:234–236. [PubMed] [Google Scholar]
  14. Magenis R. E., Casanova M., Fellous M., Olson S., Sheehy R. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet. 1987 Mar;75(3):228–233. doi: 10.1007/BF00281064. [DOI] [PubMed] [Google Scholar]
  15. Magenis R. E., Webb M. J., McKean R. S., Tomar D., Allen L. J., Kammer H., Van Dyke D. L., Lovrien E. Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype. Hum Genet. 1982;62(3):271–276. doi: 10.1007/BF00333535. [DOI] [PubMed] [Google Scholar]
  16. Mittwoch U. Males, females and hermaphrodites. An inaugural lecture delivered by Professor Ursula Mittwoch at University College London on 24 October 1985. Ann Hum Genet. 1986 May;50(Pt 2):103–121. doi: 10.1111/j.1469-1809.1986.tb01029.x. [DOI] [PubMed] [Google Scholar]
  17. Müller U., Donlon T., Schmid M., Fitch N., Richer C. L., Lalande M., Latt S. A. Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res. 1986 Aug 26;14(16):6489–6505. doi: 10.1093/nar/14.16.6489. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Oberle I., Camerino G., Heilig R., Grunebaum L., Cazenave J. P., Crapanzano C., Mannucci P. M., Mandel J. L. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N Engl J Med. 1985 Mar 14;312(11):682–686. doi: 10.1056/NEJM198503143121103. [DOI] [PubMed] [Google Scholar]
  19. Page D. C., Brown L. G., de la Chapelle A. Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. 1987 Jul 30-Aug 5Nature. 328(6129):437–440. doi: 10.1038/328437a0. [DOI] [PubMed] [Google Scholar]
  20. Page D. C., Harper M. E., Love J., Botstein D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature. 1984 Sep 13;311(5982):119–123. doi: 10.1038/311119a0. [DOI] [PubMed] [Google Scholar]
  21. Page D. C., Mosher R., Simpson E. M., Fisher E. M., Mardon G., Pollack J., McGillivray B., de la Chapelle A., Brown L. G. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987 Dec 24;51(6):1091–1104. doi: 10.1016/0092-8674(87)90595-2. [DOI] [PubMed] [Google Scholar]
  22. Page D. C., de la Chapelle A. The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet. 1984 May;36(3):565–575. [PMC free article] [PubMed] [Google Scholar]
  23. Page D. C., de la Chapelle A., Weissenbach J. Chromosome Y-specific DNA in related human XX males. Nature. 1985 May 16;315(6016):224–226. doi: 10.1038/315224a0. [DOI] [PubMed] [Google Scholar]
  24. Petit C., de la Chapelle A., Levilliers J., Castillo S., Noël B., Weissenbach J. An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell. 1987 Jun 5;49(5):595–602. doi: 10.1016/0092-8674(87)90535-6. [DOI] [PubMed] [Google Scholar]
  25. ROSENBERG H. S., CLAYTON G. W., HSU T. C. Familial true hermaphrodism. J Clin Endocrinol Metab. 1963 Feb;23:203–206. doi: 10.1210/jcem-23-2-203. [DOI] [PubMed] [Google Scholar]
  26. Roux J. P., Kowen D., Retief P. J. The management of paediatric hermaphroditism. S Afr Med J. 1974 Oct 16;48(50):2088–2096. [PubMed] [Google Scholar]
  27. Skordis N. A., Stetka D. G., MacGillivray M. H., Greenfield S. P. Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. J Pediatr. 1987 Feb;110(2):244–248. doi: 10.1016/s0022-3476(87)80162-2. [DOI] [PubMed] [Google Scholar]
  28. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  29. Sykes B. C. DNA in heritable disease. Lancet. 1983 Oct 1;2(8353):787–788. doi: 10.1016/s0140-6736(83)92314-0. [DOI] [PubMed] [Google Scholar]
  30. Vergnaud G., Page D. C., Simmler M. C., Brown L., Rouyer F., Noel B., Botstein D., de la Chapelle A., Weissenbach J. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986 Feb;38(2):109–124. [PMC free article] [PubMed] [Google Scholar]
  31. Wilton E. A cytogenetic study of patients with anomalous sexual development. S Afr J Surg. 1969 Apr-Jun;7(2):45–48. [PubMed] [Google Scholar]
  32. Wolfe J., Darling S. M., Erickson R. P., Craig I. W., Buckle V. J., Rigby P. W., Willard H. F., Goodfellow P. N. Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol. 1985 Apr 20;182(4):477–485. doi: 10.1016/0022-2836(85)90234-7. [DOI] [PubMed] [Google Scholar]
  33. Yunis J. J. High resolution of human chromosomes. Science. 1976 Mar 26;191(4233):1268–1270. doi: 10.1126/science.1257746. [DOI] [PubMed] [Google Scholar]
  34. de Souza J. J., Barnett P., Kisner C. D., Murray J. P. True hermaphroditism. A case report with observations on its bizarre presentation. S Afr Med J. 1984 Dec 1;66(22):855–858. [PubMed] [Google Scholar]
  35. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58(1):105–116. doi: 10.1007/BF00284157. [DOI] [PubMed] [Google Scholar]
  36. de la Chapelle A., Tippett P. A., Wetterstrand G., Page D. Genetic evidence of X-Y interchange in a human XX male. Nature. 1984 Jan 12;307(5947):170–171. doi: 10.1038/307170a0. [DOI] [PubMed] [Google Scholar]
  37. van Niekerk W. A., Retief A. E. The gonads of human true hermaphrodites. Hum Genet. 1981;58(1):117–122. doi: 10.1007/BF00284158. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES