Summary
A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job JC, Fellous M (1990) A possible common origin of “Y negative” human XX males and XX true hermaphrodites. Hum Genet 84:356–360
Affara NA, Fergusson-Smith MA, Tolmie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florentin L (1986) Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res 14:5375–5387
Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stetten G, Goodfellow PN, Smith KD, Migeon CJ (1992) The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet 88:411–416
Bishop CE, Guellaen G, Gedwerth D, Voss R, Fellous M, Weissenbach J (1983) Single copy DNA sequences specific for the human Y chromosome. Nature 30:831–832
Burgoyne PS (1989) Thumbs down for zinc finger? Nature 342:860–862
Cattanach BM, Evans EP, Burtenshaw MD, Barlow J (1982) Male female and intersex development in mice of identical chromosome constitution. Nature 300:445–446
Caubet JF, Mathieu-Mahul D, Bernheim A, Larsen CJ, Berger R (1985) Human protooncogene c-mos maps to 8q11. EMBO J 4:2245–2248
Chapelle A de la (1987) The Y-chromosomal and autosomal testisdetermining genes. Development [Suppl] 101:33–38
Eicher EM, Washburn LL (1986) Genetic control of primary sex determination in mice. Annu Rev Genet 20:327–360
Ellis NA, Goodfellow PJ, Pym B (1989) The pseudoautosomal boundary in man is defined by an alu-repeat sequence inserted on the Y chromosome. Nature 337:88–84
Ellis N, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P (1990) Population structure of the human pseudoautosomal boundary. Nature 344:663–665
Hamerton JL, Dickson JM, Pollard CE, Grieves SH, Short RV (1969) Genetic intersexuality in goat. J Reprod Fertil [Suppl] 7:25–51
Harper ME, Saunders GF (1981) Localisation of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83:431–439
Jäger RJ, Ebensperger C, Fraccaro M, Scherer G (1990) A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. Hum Genet 85:666–668
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for Sry. Nature 351:117–121
McLaren A (1991) Sex determination in mammals. Oxf Rev Reprod Biol 13:1–33
Mohandas T, Geller RL, Yen PH, Rosendorff J, Bernstein R, Yoshida A, Shapiro LJ (1987) Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation. Proc Natl Acad Sci USA 84:4954–4958
Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T (1991) PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet 41:112–114
Page DC, Mosher RE, Simpson EM, Fisher EMC, Mardon G, Pollack J, Chapelle A de la, Brown LG (1987) The sex determining region of the human Y chromosome encodes a finger protein. Cell 51:1091–1104
Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NE, Fellous M (1989) Genetic evidence that ZFY is not the testis-determining factor. 342:937–939
Petit C, Chapelle A de la, Levilliers J, et al (1987) An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell 49:565–602
Prader A (1954) Der Genitalbefund beim Pseudohermaphroditismus femininus des kongenitalen adrenogenitalen Syndroms: Morphologie, Häufigkeit, Entwicklung und Vererbung der verschiedenen Genitalformen. Helv Paediatr Acta 9:231–248
Ramsay M, Bernstein R, Zwane E, Page DC, Jenkins T (1988) XX true hermaphroditism in Southern African Blacks: an enigma of primary sexual differentiation. Am J Hum Genet 43:4–13
Seboun E, Leroy P, Casanova M, Magenis E, Boucekkine C, Disteche C, Bishop C, Fellous M (1986) A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man. Cold Spring Harb Symp Quant Biol 51:237–248
Shapiro LJ (1985) Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet 14:331–381
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JM, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Van Niekerk WA (1981) The intersex child. In: Josso N (eds) Pediat Adolesc Endocr. Kuger, Basel, pp 80–99
Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Boisieux D, Chapelle A de la, Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridisation. Am J Hum Genet 38:109–124
Waibel F, Scherer G, Fraccaro M, Hustinx TWJ, Weissenbach J, Wieland J, Mayerova A, Back E, Wolf U (1987) Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. Hum Genet 76:332–336
Weissenbach J, Goodfellow PN, Smith KD (1989) Report of the committee on the genetic constitution of the Y chromosome (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:438–449
Wolf U (1988) Sex inversion as a model for the study of sex determination in vertebrates. Phil Trans R Soc Lond [Biol] 322:97–107
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
McElreavey, K., Rappaport, R., Vilain, E. et al. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 90, 121–125 (1992). https://doi.org/10.1007/BF00210754
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00210754