XY Female

  • Harold Chen
Reference work entry


XY females are completely sex-reversed individuals who are phenotypically females with 46,XY karyotype, failure to develop secondary sex characteristics, amenorrhea, and “streak gonads.”


  1. Ahlquist, J. A. (1994). Gender identity in testicular feminization. BMJ, 308, 1041.CrossRefPubMedCentralGoogle Scholar
  2. Ahmed, S. F., & Hughes, I. A. (2002). The genetics of male undermasculinization. Clinical Endocrinology, 56, 1–18.CrossRefGoogle Scholar
  3. Arn, P., Chen, H., Tuck-Muller, C. M., et al. (1994). SRVX, a sex reversing locus in Xp21.2-p22.11. Human Genetics, 93, 389–393.CrossRefGoogle Scholar
  4. Bardoni, B., Zanaria, E., Guioli, S., et al. (1994). A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genetics, 7, 497–501.CrossRefGoogle Scholar
  5. Barr, M. L., Carr, D. H., & Plunkett, E. (1967). Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. American Journal of Obstetrics & Gynecology, 99, 1047–1055.CrossRefGoogle Scholar
  6. Battaglia, F., Plotti, F., Angelucci, M., et al. (2013). Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report. Journal of Obstetrics and Gynaecology Research, 39, 442–445.CrossRefGoogle Scholar
  7. Berkovitz, G. D. (1992). Abnormalities of gonad determination and differentiation. Seminars in Perinatology, 16, 289–298.Google Scholar
  8. Berta, P., Hawkins, J. R., Sinclair, A. H., et al. (1990). Genetic evidence equating SRY and the testis-determining factor. Nature, 348, 448–450.CrossRefGoogle Scholar
  9. Bhagavath, B., Layman, L. C., Ullmann, R., et al. (2014). Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Molecular and Cellular Endocrinology, 393, 1–7.CrossRefPubMedCentralGoogle Scholar
  10. Bretelle, F., Salomon, L., Senat, M.-V., et al. (2002). Fetal gender: Antenatal discrepancy between phenotype and genotype. Ultrasound in Obstetrics & Gynecology, 20, 286–289.CrossRefGoogle Scholar
  11. Calvari, V., Bertini, V., De Grandi, A., et al. (2000). A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics, 65, 203–212.CrossRefGoogle Scholar
  12. Cameron, F., & Sinclair, A. H. (1997). Mutations in SRY and SOX9: Testis-determining genes. Human Mutation, 9, 388–395.CrossRefGoogle Scholar
  13. Du, X., Zhang, X., Li, Y., et al. (2014). 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. Experimental and Therapeutic Medicine, 8, 1102–1104.CrossRefPubMedCentralGoogle Scholar
  14. Goodfellow, P. N., & Lovell-Badge, R. (1993). SRY and sex determination in mammals. Annual Review of Genetics, 27, 71–92.CrossRefGoogle Scholar
  15. Graves, P. E., Davis, D., Erickson, R. P., et al. (1999). Ascertainment and mutational studies of SRY in nine XY females. American Journal of Medical Genetics, 83, 138–139.CrossRefGoogle Scholar
  16. Harley, V. R., & Goodfellow, P. N. (1994). The biochemical role of SRY in sex determination. Molecular Reproduction and Development, 39, 184–193.CrossRefGoogle Scholar
  17. Hawkins, J. R. (1995). Genetics of XY sex reversal. Journal of Endocrinology, 147, 183–187.CrossRefGoogle Scholar
  18. Hawkins, J. R., Taylor, A., Goodfellow, P. N., et al. (1992a). Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. American Journal of Human Genetics, 51, 979–984.PubMedCentralGoogle Scholar
  19. Hawkins, J. R., Taylor, A., Berta, P., et al. (1992b). Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Human Genetics, 88, 471–475.CrossRefGoogle Scholar
  20. Helszer, Z., Dmochowska, A., & Borkowska, E. (2013a). A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome. Endokrynologia Polska, 64, 398–402.CrossRefGoogle Scholar
  21. Helszer, Z., Dmochowska, A., Szemraj, J., et al. (2013b). A novel mutation (c. 341 A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. Gene, 526, 467–470.CrossRefGoogle Scholar
  22. Hersmus, R., van der Zwan, Y. g., Stoop, H., et al. (2012). A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. PLoS One, 7, 1–8.Google Scholar
  23. Hines, R. S., Tho, S. P. T., Zhang, Y. Y., et al. (1997). Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal. Fertility & Sterility, 67, 675–679.CrossRefGoogle Scholar
  24. Hughes, L. A. (2008). Disorders of sex developments: A new definition and classification. Best Practice & Research. Clinical Endocrinology & Metabolism, 22, 119–134.CrossRefGoogle Scholar
  25. Jäger, R. J., Anvret, M., Hall, K., et al. (1990). A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature, 348, 452–454.CrossRefGoogle Scholar
  26. Jordan, B. K., Jain, M., Natarajan, S., et al. (2002). Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. Journal of Clinical Endocrinology and Metabolism, 87, 3428–3432.CrossRefGoogle Scholar
  27. Koopman, P., Gubay, J., Vivian, N., et al. (1991). Male development of chromosomally female mice transgenic for Sry. Nature, 351, 117–121.CrossRefGoogle Scholar
  28. Kwok, C., Weller, P. A., Guioli, S., et al. (1995). Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. American Journal of Human Genetics, 57, 1028–1036.PubMedCentralGoogle Scholar
  29. Mannaerts, D., Muys, J., Blaumeiser, B., et al. (2015). A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. BMJ Case Reports, 2015, 1–3.Google Scholar
  30. McDonald, M. T., Flejter, W., Sheldon, S., et al. (1997). XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. American Journal of Medical Genetics, 73, 321–326.CrossRefGoogle Scholar
  31. McElreavey, K., Vilain, E., Abbas, N., et al. (1992). XY sex reversal associated with a deletion 5′ to the SRY “HMG box” in the testis-determining region. Proceedings of the National Academy of Sciences of the United States of America, 89, 11016–11020.CrossRefGoogle Scholar
  32. McElreavey, K., Vilain, E., Barbauxz, S., et al. (1996). Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proceedings of the National Academy of Sciences of the United States of America, 93, 8590–8594.CrossRefPubMedCentralGoogle Scholar
  33. Mendonca, B. B., Domenice, S., Arnhold, I. J. P., et al. (2009). 46, XY disorders of sex development (DSD). Clinical Endocrinology, 70, 173–184.Google Scholar
  34. Michala, L., & Creighton, S. M. (2010). The XY female. Best Practice & Research. Clinical Obstetrics & Gynaecology, 24, 139–148.CrossRefGoogle Scholar
  35. Morerio, C., Calvari, V., Rosanda, C., et al. (2002). XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene. Cancer Genetics and Cytogenetics, 136, 58–61.CrossRefGoogle Scholar
  36. Morris, J. M. (1953). The syndrome of testicular feminization in male pseudohermaphrodites. American Journal of Obstetrics and Gynecology, 65, 1192–1211.CrossRefGoogle Scholar
  37. Nair Rema, V., & Bhavana, S. (2012). XY female with complete androgen insensitivity syndrome with bilateral inguinal hernia. Journal of Obstetrics and Gynecology of India, 62, S65–S67.CrossRefGoogle Scholar
  38. Nazareth, H. R. S., Moreira-Filho, C. A., Cunha, A. J. B., et al. (1979). Antigens in 46,XY pure testicular dysgenesis. American Journal of Medical Genetics, 3, 149–154.CrossRefGoogle Scholar
  39. Odeh, M., Granin, V., Kais, M., et al. (2009). Sonographic fetal sex determination. Obstetrical & Gynecological Survey, 64, 50–57.CrossRefGoogle Scholar
  40. Portuondo, J. A., Neyro, J. L., Barral, A., et al. (1986). Management of phenotypic female patients with an XY karyotype. The Journal of Reproductive Medicine, 31, 611–615.Google Scholar
  41. Ramprasad, D., Chandra, B. S., Nibedita, C., et al. (2012). The XY female (androgen insensitivity syndrome)-Runs in the family. Journal of Obstetrics and Gynecology of India, 62, 332–333.Google Scholar
  42. Rey, R., & Picard, J. Y. (1998). Embryology and endocrinology of genital development. Baillière’s Clinical Endocrinology and Metabolism, 12(1), 17–33.CrossRefGoogle Scholar
  43. Sarafoglou, K., & Ostrer, H. (2000). Clinical review 111: Familial sex reversal: A review. Journal of Clinical Endocrinology and Metabolism, 85, 483–493.CrossRefGoogle Scholar
  44. Sauer, M. V., Lobo, R. A., & Paulson, R. J. (1989). Successful twin pregnancy after embryo donation to a patient with 46,XY gonadal dysgenesis. American Journal of Obstetrics and Gynecology, 161, 380–381.CrossRefGoogle Scholar
  45. Schäffler, A., Barth, N., Winkler, K., et al. (2000). Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: Report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. Journal of Clinical Endocrinology and Metabolism, 85, 2287–2292.CrossRefGoogle Scholar
  46. Siklar, Z., Berberoğlu, M., Ceylaner, S., et al. (2014). A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. Journal of Pediatric and Adolescent Gynecology, 27, 98–101.CrossRefGoogle Scholar
  47. Simpson, J. L., Blgowidow, N., & Martin, A. O. (1981). XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status, and segregation analysis. Human Genetics, 58, 91–97.CrossRefGoogle Scholar
  48. Sinclair, A. H., Berta, P., Palmer, M. S., et al. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature, 346, 240–245.CrossRefGoogle Scholar
  49. Swain, A., Zanaria, E., Hacker, A., et al. (1996). Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nature Genetics, 12, 404–409.CrossRefGoogle Scholar
  50. Veitia, R., Ion, A., Barbaux, S., et al. (1997). Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Human Genetics, 99, 648–652.CrossRefGoogle Scholar
  51. Vilain, E., Jaubert, F., Fellous, M., et al. (1993). Pathology of 46,XY pure gonadal dysgenesis: Absence of testis differentiation associated with mutations in the testis-determining factor. Differentiation, 52, 151–159.CrossRefGoogle Scholar
  52. Zhu, Y. S., Katz, M. D., & Imperato-McGinley, J. (1998). Natural potent androgens: Lessons from human genetic models. Baillière’s Clinical Endocrinology and Metabolism, 12, 83–113.CrossRefGoogle Scholar

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© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Harold Chen
    • 1
  1. 1.Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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