Skip to main content
SpringerLink
Log in

Disorders of Female Sex Differentiation

  • Chapter
Pathology of the Female Genital Tract

Abstract

This chapter deals with disturbances of female sex differentiation during embryogenesis and the resulting disorders of genetic, gonadal, and phenotypic sex. Because the embryologic details have been discussed in another chapter, they are only briefly reviewed. An understanding of the pathogenesis of abnormal sexual differentiation is essential as a basis of diagnosis and ultimate therapy.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Alexander, D., and Money, J. Reading ability, object constancy, and Turner’s syndrome. Percept. Mot. Skills 20: 981, 1965.

    Article  PubMed  CAS  Google Scholar 

  2. Anger, D., Hemet, J., and Ensel, J. Forme familiale du syndrome de Rokitansky-Küster-Hauser. Bull. Fed. Soc. Gynecol. Obstet. Lang. Fr. 18: 229, 1966.

    CAS  Google Scholar 

  3. Archibald, R. M., Finby, N., and deVito, F. Endocrine significance of short metacarpals. J. Clin. Endocrinol. 19: 1313, 1959.

    Article  Google Scholar 

  4. Back, F., Karl, H. L., and Macias-Alvarez, I. Familial XY gonadal dysgenesis. Lancet. 2: 635, 1968.

    Article  PubMed  CAS  Google Scholar 

  5. Bahner, F., Schwarz, G., Harnden, D. G., Jacobs, P. A., Heinz, H. A., and Walter, K. A fertile female with XO sex chromosome constitution. Lancet 2: 100, 1960.

    Article  Google Scholar 

  6. Bardin, C. W., Bullock, L., Blackburn, W. R., Sherins, R. J., and Vanha-Perttula, T. Testosterone metabolism in the androgen-insensitive rat: A model for testicular feminization, in Bergsma, D., ed.: Part X. The Endocrine System, Birth Defects: Original Article Series. Baltimore, Williams and Wilkins Co., for the National Foundation-March of Dimes, 1971, Vol. VII, No. 6, pp. 185–192.

    Google Scholar 

  7. Barr, M. L., and Bertram, E. G. A morphological distinction between neurones of the male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature (London) 163: 676, 1949.

    Article  CAS  Google Scholar 

  8. Barr, M. L., Carr, D. H., Plunkett, E. R., Soltan, H. C., and Weins, R. G. Male pseudo hermaphroditism and pure gonadal dysgenesis in sisters. Am. J. Obstet. Gynecol. 99: 1047, 1967.

    PubMed  CAS  Google Scholar 

  9. Benson, P. F., Gough, M. H., and Polani, P. E. Lymphangiography and chromosome studies in females with lymphoedema and possible ovarian dysgenesis. Arch. Dis. Child. 40: 27, 1965.

    Article  PubMed  CAS  Google Scholar 

  10. Berger, R., Abonyi, D., Nodot, A., Vialatte, S., and Lejeune, J. Hermaphrodisme vrai et “Garcon XX” dans une Fratrie. Res. Eur. Etudes. Clin. Biol. 15: 330, 1970.

    CAS  Google Scholar 

  11. Bergsma, D., ed. Chicago Conference: Standardization in Human Cytogenetics, Birth Defects: Original Article Series. White Plains, The National Foundation-March of Dimes, 1966, Vol. II, No. 2.

    Google Scholar 

  12. Bergsma, D., ed. Paris conference (1971): Standardization in Human Cytogenetics, Birth Defects: Original Article Series. White Plains, The National Foundation-March of Dimes, 1972, Vol. VIII, No. 7.

    Google Scholar 

  13. Blackston, R. D., and Chen, A. T. L. A case of 48, XXXX female with normal intelligence. J. Med. Genet. 9: 230, 1972.

    Article  PubMed  CAS  Google Scholar 

  14. Bloch, P., Curchod, A., and Cordey, R. Confection d’un neo-vagin par dedoublement du ligament large dans un cas de Rokitansky-Küster-Hauser. Gynaecologic 151: 113, 1961.

    Google Scholar 

  15. Boczkowski, K. Further observations on the syndrome of pure gonadal dysgenesis. Am. J. Obstet. Gynecol. 106: 1177, 1970.

    PubMed  CAS  Google Scholar 

  16. Boczkowski, K. Pure gonadal dysgenesis and ovarian dysplasia in sisters. Am. J. Obstet. Gynecol. 106: 626, 1970.

    PubMed  CAS  Google Scholar 

  17. Brogger, A., and Strand, A. Contribution to the study of the so called pure gonadal dysgenesis. Acta Endocrinol. 48: 490, 1965.

    PubMed  CAS  Google Scholar 

  18. Carr, D. H. Chromosome studies in spontaneous abortions. Obstet. Gynecol. 26: 308, 1965.

    PubMed  CAS  Google Scholar 

  19. Carr, D. H. Cytogenetic aspects of induced and spontaneous abortions. Clin. Obstet. Gynecol. 15: 203, 1972.

    Article  PubMed  CAS  Google Scholar 

  20. Chemke, J., Carmichael, R., Stewart, J. M., Greer, R. H., and Robinson, A. Familial XY gonadal dysgenesis. J. Med. Genet. 7: 105, 1970.

    Article  PubMed  CAS  Google Scholar 

  21. Chen, A. T., Chan, Y. K., and Falek, A. The effects of chromosome abnormalities on birth weight in man. I. Sex chromosome disorders. Hum. Hered. 21: 543, 1971.

    Article  PubMed  CAS  Google Scholar 

  22. Christakos, A. C., Simpson, J. L., Younger, J. B., and Christian, C. D. Gonadal dysgenesis as an autosomal recessive condition. Am. J. Obstet. Gynecol. 104: 1027, 1969.

    PubMed  CAS  Google Scholar 

  23. Clayton, G. W., Smith, J. F., and Rosenberg, H. S. Familial true hermaphroditism in pre-and post-pubertal genetic females. Hormonal and morphologic studies. J. Clin. Endocrinol. 18: 1349, 1958.

    Article  CAS  Google Scholar 

  24. Cohen, M. M., Sandberg, A. A., Takagi, N., et al. Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics (Basel) 6: 254, 1967.

    Article  CAS  Google Scholar 

  25. Cohen, M. M., and Shaw, M. W. Two XY siblings with gonadal dysgenesis and a female phenotype. N. Engl. J. Med. 272: 1083, 1965.

    Article  PubMed  CAS  Google Scholar 

  26. Court Brown, W. M., Harnden, D. G., Jacobs, P. A., Maclean, N., and Mantle, D. J. Abnormalities of the Sex Chromosome Complement in Man. Med. Res. Council, Spec. Rept. Ser. No. 305. London, Her Majesty’s Stationery Office, 1964.

    Google Scholar 

  27. Dalla Palma, L., Cavina, C., and Borghi, A. Radiological aspects of the urinary tract in Turner’s syndrome. Radial. Clin. Biol. 36: 328, 1967.

    Google Scholar 

  28. Daughaday, W. H., Laron, Z., Pertzelan, A., and Heins, J. N. Defective sulfation factor generation: A possible etiological link in dwarfism. Trans. Assoc. Am. Physicians 82: 129, 1969.

    PubMed  CAS  Google Scholar 

  29. Davidoff, F., and Federman, D. D. Mixed gonadal dysgenesis. Pediatrics 52: 725, 1973.

    PubMed  CAS  Google Scholar 

  30. Dewhurst, C. J., Paine, C. G., and Blank, C. E. An XY female with absent gonads and vestigial pelvic organs. J. Obstet. Gynaecol. Br. Commonw. 70: 675, 1963.

    Article  PubMed  CAS  Google Scholar 

  31. Donaldson, C. L., Wegienka, L. C., Miller, D., and Forsham, P. H. Growth hormone studies in Turner’s syndrome. J. Clin. Endocrinol. 28: 383, 1968.

    Article  CAS  Google Scholar 

  32. Doniach, D., Roitt, I. M., and Polani, P. E. Thyroid antibodies and sex chromosome anomalies. Proc. R. Soc. Med. 61: 278, 1968.

    PubMed  CAS  Google Scholar 

  33. Egli, F., and Stalder, G. Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18: 1, 1973.

    PubMed  CAS  Google Scholar 

  34. Elliot, G. A., Sandler, A., and Rabinowitz, D. Gonadal dysgenesis in three sisters. J. Clin. Endocrinol. 19: 995, 1959.

    Article  Google Scholar 

  35. Engel, E., and Forbes, A. P. Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine 44: 135, 1965.

    Article  PubMed  CAS  Google Scholar 

  36. Espiner, E. A., Veale, A. M. O., Sands, V. E., and Fitzgerald, P. H. Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N. Engl. J. Med. 283: 6, 1970.

    Article  PubMed  CAS  Google Scholar 

  37. Federman, D. D. Abnormal Sexual Development. Philadelphia, W. B. Saunders Co., 1968.

    Google Scholar 

  38. Ferguson-Smith, M. A. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2: 142, 1965.

    Article  PubMed  CAS  Google Scholar 

  39. Ferguson-Smith, M. A. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter’s syndrome. Lancet 2: 475, 1966.

    Article  PubMed  CAS  Google Scholar 

  40. Ferguson-Smith, M. A. Phenotypic aspects of sex chromosome aberrations. Birth Defects: Original Article Series 5: 3, 1969.

    Google Scholar 

  41. Ferguson-Smith, M. A. Chromosomal abnormalities. II. Sex chromosome defects. Hosp. Prod. 5: 88, 1970.

    Google Scholar 

  42. Ferguson-Smith, M. A., Alexander, D. S., Bowen, P., et al. Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner’s syndrome. Cytogenetics 3: 355, 1964.

    Article  PubMed  CAS  Google Scholar 

  43. Ferrier, P. E., Ferrier, S. A., and Kelley, V. C. Sex chromosome mosaicism in disorders of sexual differentiation: incidence in various tissues. J. Pediat. 76: 739, 1970.

    Article  PubMed  CAS  Google Scholar 

  44. Fialkow, P. J. Genetic aspects of autoimmunity. Prog. Med. Genet. 7: 117, 1969.

    Google Scholar 

  45. Finby, N., and Archibald, R. M. Skeletal abnormalities associated with gonadal dysgenesis. Am. J. Roentgenol. 89: 1222, 1963.

    CAS  Google Scholar 

  46. Fischer, P., Golab, E., and Holzner, H. XY gonadal dysgenesis and malignancy. Lancet 2: 110, 1969.

    Article  PubMed  CAS  Google Scholar 

  47. Forbes, A. P., and Engle, E. The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis and their close relatives. Metabolism 12: 428, 1963.

    PubMed  CAS  Google Scholar 

  48. Ford, C. E., and Hamerton, J. L. The chromosomes of man. Nature (London) 178: 1010, 1956.

    Article  Google Scholar 

  49. Ford, C. E., Jones, K. W., Polani, P. E., et al. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet 1: 711, 1959.

    Article  PubMed  CAS  Google Scholar 

  50. Fraccaro, M., Gemzell, C. A., and Lindsten, J. Plasma level of growth hormone and chromosome complement in four patients with gonadal dysgenesis (Turner’s syndrome). Acta Endocrinol. 34: 496, 1960.

    PubMed  CAS  Google Scholar 

  51. Frasier, S. D., Bashore, R. A., and Mosier, H. D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J. Pediatr. 64: 740, 1964.

    Article  PubMed  CAS  Google Scholar 

  52. Frasier, S. D., Crudd, F. S. Jr., and Farrell, F. J. Buccal smears in the newborn female. J. Pediatr. 65: 222, 1964.

    Article  PubMed  CAS  Google Scholar 

  53. Freeman, M. V. R., and Miller, O. J. XY gonadal dysgenesis and gonadoblastoma: Report of a case. Obstet. Gynecol. 34: 478, 1969.

    PubMed  CAS  Google Scholar 

  54. Gallagher, H. S., and Lewis, R. P. Sequential gonadoblastoma and choriocarcinoma. Obstet. Gynecol. 41: 123, 1973.

    Google Scholar 

  55. Garron, D. C., and Vander Stoep, L. R. Personality and intelligence in Turner’s syndrome. A critical review. Arch. Gen. Psychiat. (Chicago) 21: 339, 1969.

    Article  CAS  Google Scholar 

  56. Gartler, S. M., Liskay, R. M., Campbell, B. K., et al. Evidence for two functional X chromosomes in human oocytes. Cell Differ. 1: 215, 1972.

    Article  PubMed  CAS  Google Scholar 

  57. German, J. Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses. Clin. Genet. 1: 15, 1970.

    Google Scholar 

  58. Goldstein, J. L., and Wilson, J. D. Hereditary disorders of sexual development in man. In Motulsky, A. G., and Lenz, W., eds.: Birth Defects. Amsterdam, Excerpta Medica, 1974, pp. 165173.

    Google Scholar 

  59. Gordon, R. R., and O’Neill, E. M. Turner’s infantile phenotype. Br. Med. J. 1: 483, 1969.

    Article  PubMed  CAS  Google Scholar 

  60. Green, O. C., Miller, R. R., Garcia, O., and Hamwi, C. J. Virilizing male pseudohermaphroditism associated with abnormal testicular function. J. Clin. Endocrinol. 29: 728, 1969.

    Article  CAS  Google Scholar 

  61. Grumbach, M. M., and Van Wyk, J. J. Disorders of sex differentiation. In Williams, R. H., ed.: Textbook of Endocrinology, 5th ed. Philadelphia, W. B. Saunders Co., 1974, pp. 423–501.

    Google Scholar 

  62. Haddad, H. M., and Wilkins, L. Congenital anomalies associated with gonadal aplasia. Review of fifty-five cases. Pediatrics 23: 885, 1959.

    PubMed  CAS  Google Scholar 

  63. Hamerton, J. L. Human Cytogenetics. New York, Academic Press, 1971, Vol. 1.

    Google Scholar 

  64. Hamerton, J. L. Human Cytogenetics. New York, Academic Press, 1971, Vol. 2.

    Google Scholar 

  65. Harnden, D. G., and Stewart, J. S. S. The chromosomes in a case of pure gonadal dysgenesis. Br. Med. J. 2: 1285, 1959.

    Article  PubMed  CAS  Google Scholar 

  66. Hauser, G. A., Keller, M., Keller, T., and Wenner, R. Das Rokitansky-Küster Syndrom. Gynaecologia 151: 111, 1961.

    PubMed  CAS  Google Scholar 

  67. Hauser, G. A., and Schreiner, W. E. Das MayerRokitansky-Küster-Syndrom. Uterus bipartitus solidus rudimentarius cum vagina solida. Schweiz. Med. Wochenschr. 91: 381, 1961.

    PubMed  CAS  Google Scholar 

  68. Hecht, F., Jones, D. L., Delay, M., et al. Xq- Turner’s syndrome: Reconsideration of hypothesis that Xp-causes somatic features in Turner’s syndrome. J. Med. Genet. 7: 1, 1970.

    Article  PubMed  CAS  Google Scholar 

  69. Hecht, F., and MacFarlane, J. P. Mosaicism in Turner’s syndrome reflects the lethality of XO. Lancet 2: 1197, 1969.

    Article  PubMed  CAS  Google Scholar 

  70. Hoffenberg, R., and Jackson, W. P. U. Gonadal dysgenesis in normal looking females. Br. Med. J. 1: 1281, 1957.

    Article  PubMed  CAS  Google Scholar 

  71. Hsu, L. Y. F., Klinger, H. P., and Weiss, J. Influence of nuclear selection criteria on sex chromatin frequency in oral mucosal cells of newborn females. Cytogenetics 6: 371, 1967.

    Article  PubMed  CAS  Google Scholar 

  72. Imperato-McGinley, J., Guerrero, L., Gautier, T., and Peterson, R. E. Steriod 5-a-reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science 186: 1213, 1974.

    Article  PubMed  CAS  Google Scholar 

  73. Inhorn, S. L., and Opitz, J. M. Abnormalities of sex development. In Bloodworth, J. M. B., ed.: Endocrine Pathology. Baltimore, Williams and Wilkins, 1968, p. 529.

    Google Scholar 

  74. Jacobs, P. A., Harnden, D. G., Court Brown, W. M., Goldstein, J., Close, H. G., MacGregor, T. N., MacLean, N., and Strong, J. A. Abnormalities involving the X chromosome in women. Lancet 1: 1213, 1960.

    Article  PubMed  CAS  Google Scholar 

  75. Jones, H. W. Jr., Ferguson-Smith, M. A., and Heller, R. H. The pathology and Cytogenetics of gonadal agenesis. Am. J. Ob-stet. Gynecol. 87: 578, 1963.

    Google Scholar 

  76. Jones, H. W. Jr., and Mermut, S. Familial occurrence of congenital absence of the vagina. Am. J. Obstet. Gynecol. 114: 1100, 1972.

    PubMed  Google Scholar 

  77. Jost, A. Problems of fetal endocrinology: The gonadal and hypophyseal hormones. Recent Prog. Res. 8: 379, 1953.

    Google Scholar 

  78. Jost, A. Recherches sur la differenciation sexuelle de l’embryon de lapin. Arch. Anat. Microsc. Morphol. Exp. 36: 271, 1946 1947.

    Google Scholar 

  79. Jost, A. The role of fetal hormones in prenatal development. In Harvey Lectures, Series 55. New York, Academic Press, 1959–1960, pp. 201–225.

    Google Scholar 

  80. Jost, A. A new look at the mechanisms controlling sex differentiation in mammals. Johns Hopkins Med. J. 130: 38, 1972.

    PubMed  CAS  Google Scholar 

  81. Kaplan, S. A., Snyder, W. H. Jr., and Little, S. Inguinal hernias in females and the testicular feminization syndrome. Am. J. Dis. Child. 117: 243, 1969.

    PubMed  CAS  Google Scholar 

  82. Karp, L., Bryant, J. I., Tagatz, G., et al. The occurrence of gonadal dysgenesis in association with monozygotic twinning. J. Med. Genet. 12 (1): 70, 1975.

    Article  PubMed  CAS  Google Scholar 

  83. Kosowicz, J. Changes in medial tibial condyle—a common finding in Turner’s syndrome. Acta Endocrinol. (kbh.) 31: 321, 1959.

    CAS  Google Scholar 

  84. Kosowicz, J. The deformity of the medial tibial condyle in nineteen cases of gonadal dysgenesis. J. Bone Joint Surg. [Am.] 42-A: 600, 1960.

    Google Scholar 

  85. Kosowicz, J. The carpal sign in gonadal dysgenesis. J. Clin. Endocrinol. 22: 949, 1962.

    Article  CAS  Google Scholar 

  86. Leduc, B., Van Campenhout, J., and Simard, R. Congenital absence of the vagina. Observations on 25 cases. Am. J. Obstet. Gynecol. 100: 512, 1968.

    PubMed  CAS  Google Scholar 

  87. Lejeune, J., Gautier, M., and Turpin, R. Etude des chromosomes somatique de neuf enfants mongoliens. C. R. Acad. Sci. [D] (Paris) 248: 1721, 1959.

    CAS  Google Scholar 

  88. Lemli, L., and Smith, D. W. The XO syndrome; a study of the differential phenotype in 25 patients. J. Pediatr. 63: 577, 1963.

    Article  PubMed  CAS  Google Scholar 

  89. Liddle, G. W., and Melmon, K. L. The adrenals. In Williams, R. H., ed.: Textbook of Endocrinology, 5th ed. Philadelphia, W. B. Saunders Co., 1974, pp. 233–322.

    Google Scholar 

  90. Lindsten, J., Bowen, P., Lee, C. S. N., McKusick, V. A., Polani, P. E., Wingate, M., Edwards, J. H., Hamper, J., Tippett, P., Sanger, R., and Race, R. R. Source of the X in XO females: The evidence of Xg. Lancet 1: 558, 1963.

    Google Scholar 

  91. Lyon, M. F. Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Hum. Genet. 14: 135, 1962.

    PubMed  CAS  Google Scholar 

  92. Lyon, M. F., and Hawkes, S. G. X-linked gene for testicular feminization in the mouse. Nature (London) 227: 1217, 1970.

    Article  CAS  Google Scholar 

  93. Mikamo, K., and de Watteville, H. Incidence of sex chromosomal anomalies in newborn infants. Int. J. Fertil. 14: 95, 1969.

    PubMed  CAS  Google Scholar 

  94. Milner, W. A., Garlick, W. B., Fink, A. J., and Stein, A. A. True hermaphrodite siblings. J. Urol. 79: 1003, 1968.

    Google Scholar 

  95. Mittwoch, U. Sex chromatin. J. Med. Genet. 1: 50, 1964.

    Article  PubMed  CAS  Google Scholar 

  96. Money, J., and Granoff, D. IQ and the somatic stigmata of Turner’s syndrome. Am. J. Ment. Defic. 70: 69, 1965.

    PubMed  CAS  Google Scholar 

  97. Moore, K. L., and Barr, M. L. Smears from the oral mucosa in the detection of chromosomal sex. Lancet 2: 57, 1955.

    Article  Google Scholar 

  98. Nakashima, I., and Robinson, A. Fertility in a 45,X female. Pediatrics 47: 770, 1971.

    PubMed  CAS  Google Scholar 

  99. Nance, W. E., and Uchida, I. Turner’s syndrome, twinning, and an unusual variant of glucose-6-phosphate dehydrogenase. Am. J. Hum. Genet. 16: 380, 1964.

    PubMed  CAS  Google Scholar 

  100. Neu, R. L., and Gardner, L. I. Abnormalities of the sex chromosomes. In Gardner, L. I., ed.: Endocrine and Genetic Diseases of Childhood. Philadelphia, W. B. Saunders Co., 1969, pp. 682–703.

    Google Scholar 

  101. Nowakowski, H., and Lenz, W. Genetic aspects in male hypogonadism. Rec. Progr. Horm. Res. 17: 53, 1961.

    PubMed  CAS  Google Scholar 

  102. Perez-Ballester, B., Greenblatt, R. B., and Byrd, J. R. Familial gonadal dysgenesis. Am. J. Obstet. Gynecol. 107: 1262, 1970.

    PubMed  CAS  Google Scholar 

  103. Polani, P. E. Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man. Philos. Trans. R. Soc. Lond. (B) 259: 187, 1970.

    Article  CAS  Google Scholar 

  104. Polani, P. E., Angell, R., Giannelli, F., et al. Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes. Nature (London) 227: 613, 1970.

    Article  CAS  Google Scholar 

  105. Race, R. R., and Sanger, R. Xg and sex-chromosome abnormalities. Br. Med. Bull. 25: 99, 1969.

    PubMed  CAS  Google Scholar 

  106. Reveno, J. S., and Palubinskas, A. J. Congenital renal abnormalities in gonadal dysgenesis. Radiology 86: 49, 1966.

    PubMed  CAS  Google Scholar 

  107. Rimoin, D. L., and Schimke, R. N. Genetic Disorders of the Endocrine Glands. Saint Louis, The C. V. Mosby Co., 1971.

    Google Scholar 

  108. Rosenberg, H. S., Clayton, G. W., and Hsu, T. C. Familial true hermaphroditism. J. Clin. Endocrinol. 23: 203, 1963.

    Article  CAS  Google Scholar 

  109. Sanger, R., Tippet, P., and Gavin, J. Xg groups and sex abnormalities in people of northern European ancestry. J. Med. Genet. 8: 417, 1971.

    Article  PubMed  CAS  Google Scholar 

  110. Sarto, G. E., Therman, E., and Patau, K. X inactivation in man: A woman with t(Xr—;12qß). Am. J. Hum. Genet. 25: 262, 1973.

    PubMed  CAS  Google Scholar 

  111. Schlegel, R. J., Neu, R. L., Leao, J. C., and Gardner, L. I. XX sex chromosomes in cells cultured from “streak gonads” and in peripheral leukocytes. J. Clin. Endocrinol. 27: 1588, 1967.

    Article  CAS  Google Scholar 

  112. Scully, R. E. Gonadoblastoma. Cancer 25: 1340, 1970.

    Article  PubMed  CAS  Google Scholar 

  113. Segall, M., Shapiro, L. R., Freedman, W., and Boone, J. A. XO/XY gonadal dysgenesis and gonadoblastoma in childhood. Obstet. Gynecol. 41: 536, 1973.

    Google Scholar 

  114. Shaffer, J. W. A specific cognitive deficit observed in gonadal aplasia (Turner’s syndrome). J. Clin. Psychoj. 18: 403, 1962.

    Article  CAS  Google Scholar 

  115. Shapiro, L. R., Hsu, L. Y. F., and Hirschhorn, K. Extra posterior cervical skin. A possible sign of chromosomal aberration in infancy. J. Pediatr. 77: 690, 1970.

    Article  PubMed  CAS  Google Scholar 

  116. Simpson, J. L. Gonadal dysgenesis and abnormalities of the human sex chromosomes: Current status of phenotypickaryotypic correlations. In Bergsma, D., ed.: Genetic Forms of Hypogonadism. Miami, Symposia Specialists, 1975, pp. 23–59.

    Google Scholar 

  117. Simpson, J. L., Christakos, A. C., Horwith, M., and Silverman, F. S. Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data. In Bergsma, D., ed.: Part X. The Endocrine System, Birth Defects: Original Article Series. Baltimore, Williams and Wilkins Co., for The National Foundation-March of Dimes, 1971, Vol. VII, No. 6, pp. 215–228.

    Google Scholar 

  118. Simpson, J. L., New, M., Peterson, R. E., and German, J. Pseudovaginal perineo-scrotal hypospadius (PPSH) in sibs. In Bergsma, D., ed.: Part X. The Endocrine System, Birth Defects: Original Article Series. Baltimore, Williams and Wilkins Co., for The National Foundation-March of Dimes, 1971, Vol. VII, No. 6, pp. 140–144.

    Google Scholar 

  119. Singh, R. P., and Carr, D. H. The anatomy and histology of XO human embryos and fetuses. Anat. Rec. 155: 369, 1966.

    Article  PubMed  CAS  Google Scholar 

  120. Singh, R. P., and Carr, D. H. Anatomic findings in human abortions of known chromosomal constitution. Obstet. Gynecol. 29: 806, 1967.

    PubMed  CAS  Google Scholar 

  121. Smith, D. W., Bartlett, C., and Harrah, L. M. Duhamel anomalad and monozygotic twinning: An association between two malformations. Birth Defects Conference. Kansas City, 1975, p. 92 (abstact).

    Google Scholar 

  122. Smith, D. W., Marden, P. M., McDonald, M. J., and Speckhard, M. Lower incidence of sex chromatin in buccal smears of newborn females. Pediatrics 30: 707, 1962.

    Google Scholar 

  123. Sohval, A. R. The syndrome of pure gonadal dysgenesis. Am. J. Med. 38: 615, 1965.

    Article  PubMed  CAS  Google Scholar 

  124. Stanesco, V., Maxmilian, C., Florea, I., and Ciovirnache, M. Trois soeurs avec dysgenesie gonadale pure et caryotype XY. Ann. Endocrinol. 29: 449, 1968.

    CAS  Google Scholar 

  125. Stempfel, R. S., Jr. Disorders of sexual development. In Gardner, L. I., ed.: Endocrine and Genetic Disease of Childhood. Philadelphia, W. B. Saunders Co., 1969, pp. 500–521.

    Google Scholar 

  126. Sternberg, W. H., Barclay, D. L., and Kloepfer, H. W. Familial XY gonadal dysgenesis. N. Engl. J. Med. 278: 695, 1968.

    Article  PubMed  CAS  Google Scholar 

  127. Taylor, A. I. Sex chromatin in the newborn. Lancet 1: 912, 1963.

    Article  PubMed  CAS  Google Scholar 

  128. Tjio, J. H., and Levan, A. The chromosome number of man. Hereditas 42: 1, 1956.

    Article  Google Scholar 

  129. Turner, H. H. Syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23: 566, 1938.

    Article  Google Scholar 

  130. Ullrich, O. Turner’s syndrome and status BonnevieUllrich: A synthesis of animal phenogenetics and clinical observations on a typical complex of developmental anomalies. Am. J. Hum. Genet. 1: 179, 1949.

    PubMed  CAS  Google Scholar 

  131. Van Campenhout, J., and Leduc, B. Unusual features in the Rokitansky-Küster-Hauser syndrome. Lancet 2: 928, 1971.

    Article  PubMed  Google Scholar 

  132. Willemse, C. H. A patient suffering from Turner’s syndrome and acromegaly. Acta Endocrinol. 39: 204, 1962.

    PubMed  CAS  Google Scholar 

  133. Williams, E. D., Engel, E., and Forbes, A. P. Thyroiditis and gonadal dysgenesis. N. Engl. J. Med. 270: 805, 1964.

    Article  PubMed  CAS  Google Scholar 

  134. Wilson, J. D., and Goldstein, J. L. Classification of heriditary disorders of sexual development. In Bergsma, D., ed.: Genetic Forms of Hypogonadism. Miami, Symposia Specialists, 1975, pp. 1–16.

    Google Scholar 

  135. Zurbrügg, R. P. Congenital adrenal hyperplasia. In Gardner, L. I., ed.: Endocrine and Genetic Diseases of Childhood. Philadelphia, W. B. Saunders Co., 1969, pp. 407–428.

    Google Scholar 

Download references

Authors
  1. Lawrence R. Shapiro M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. New York University School of Medicine, New York, New York, USA

    Ancel Blaustein (Clinical Professor of Pathology) (Clinical Professor of Pathology)

Rights and permissions

Reprints and permissions

Copyright information

© 1977 Springer Science+Business Media New York

About this chapter

Cite this chapter

Shapiro, L.R. (1977). Disorders of Female Sex Differentiation. In: Blaustein, A. (eds) Pathology of the Female Genital Tract. Springer, New York, NY. https://doi.org/10.1007/978-1-4757-6143-6_23

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-6143-6_23

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4757-6145-0

  • Online ISBN: 978-1-4757-6143-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation