Disorders of Female Sex Differentiation

  • Lawrence R. Shapiro


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.


Congenital Adrenal Hyperplasia Gonadal Dysgenesis Male Pseudohermaphroditism Testicular Feminization Streak Gonad 
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  1. 1.
    Alexander, D., and Money, J. Reading ability, object constancy, and Turner’s syndrome. Percept. Mot. Skills 20: 981, 1965.PubMedCrossRefGoogle Scholar
  2. 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.Google Scholar
  3. 3.
    Archibald, R. M., Finby, N., and deVito, F. Endocrine significance of short metacarpals. J. Clin. Endocrinol. 19: 1313, 1959.CrossRefGoogle Scholar
  4. 4.
    Back, F., Karl, H. L., and Macias-Alvarez, I. Familial XY gonadal dysgenesis. Lancet. 2: 635, 1968.PubMedCrossRefGoogle Scholar
  5. 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.CrossRefGoogle Scholar
  6. 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. 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.CrossRefGoogle Scholar
  8. 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.PubMedGoogle Scholar
  9. 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.PubMedCrossRefGoogle Scholar
  10. 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.Google Scholar
  11. 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. 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. 13.
    Blackston, R. D., and Chen, A. T. L. A case of 48, XXXX female with normal intelligence. J. Med. Genet. 9: 230, 1972.PubMedCrossRefGoogle Scholar
  14. 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. 15.
    Boczkowski, K. Further observations on the syndrome of pure gonadal dysgenesis. Am. J. Obstet. Gynecol. 106: 1177, 1970.PubMedGoogle Scholar
  16. 16.
    Boczkowski, K. Pure gonadal dysgenesis and ovarian dysplasia in sisters. Am. J. Obstet. Gynecol. 106: 626, 1970.PubMedGoogle Scholar
  17. 17.
    Brogger, A., and Strand, A. Contribution to the study of the so called pure gonadal dysgenesis. Acta Endocrinol. 48: 490, 1965.PubMedGoogle Scholar
  18. 18.
    Carr, D. H. Chromosome studies in spontaneous abortions. Obstet. Gynecol. 26: 308, 1965.PubMedGoogle Scholar
  19. 19.
    Carr, D. H. Cytogenetic aspects of induced and spontaneous abortions. Clin. Obstet. Gynecol. 15: 203, 1972.PubMedCrossRefGoogle Scholar
  20. 20.
    Chemke, J., Carmichael, R., Stewart, J. M., Greer, R. H., and Robinson, A. Familial XY gonadal dysgenesis. J. Med. Genet. 7: 105, 1970.PubMedCrossRefGoogle Scholar
  21. 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.PubMedCrossRefGoogle Scholar
  22. 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.PubMedGoogle Scholar
  23. 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.CrossRefGoogle Scholar
  24. 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.CrossRefGoogle Scholar
  25. 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.PubMedCrossRefGoogle Scholar
  26. 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. 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. 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.PubMedGoogle Scholar
  29. 29.
    Davidoff, F., and Federman, D. D. Mixed gonadal dysgenesis. Pediatrics 52: 725, 1973.PubMedGoogle Scholar
  30. 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.PubMedCrossRefGoogle Scholar
  31. 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.CrossRefGoogle Scholar
  32. 32.
    Doniach, D., Roitt, I. M., and Polani, P. E. Thyroid antibodies and sex chromosome anomalies. Proc. R. Soc. Med. 61: 278, 1968.PubMedGoogle Scholar
  33. 33.
    Egli, F., and Stalder, G. Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18: 1, 1973.PubMedGoogle Scholar
  34. 34.
    Elliot, G. A., Sandler, A., and Rabinowitz, D. Gonadal dysgenesis in three sisters. J. Clin. Endocrinol. 19: 995, 1959.CrossRefGoogle Scholar
  35. 35.
    Engel, E., and Forbes, A. P. Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine 44: 135, 1965.PubMedCrossRefGoogle Scholar
  36. 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.PubMedCrossRefGoogle Scholar
  37. 37.
    Federman, D. D. Abnormal Sexual Development. Philadelphia, W. B. Saunders Co., 1968.Google Scholar
  38. 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.PubMedCrossRefGoogle Scholar
  39. 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.PubMedCrossRefGoogle Scholar
  40. 40.
    Ferguson-Smith, M. A. Phenotypic aspects of sex chromosome aberrations. Birth Defects: Original Article Series 5: 3, 1969.Google Scholar
  41. 41.
    Ferguson-Smith, M. A. Chromosomal abnormalities. II. Sex chromosome defects. Hosp. Prod. 5: 88, 1970.Google Scholar
  42. 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.PubMedCrossRefGoogle Scholar
  43. 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.PubMedCrossRefGoogle Scholar
  44. 44.
    Fialkow, P. J. Genetic aspects of autoimmunity. Prog. Med. Genet. 7: 117, 1969.Google Scholar
  45. 45.
    Finby, N., and Archibald, R. M. Skeletal abnormalities associated with gonadal dysgenesis. Am. J. Roentgenol. 89: 1222, 1963.Google Scholar
  46. 46.
    Fischer, P., Golab, E., and Holzner, H. XY gonadal dysgenesis and malignancy. Lancet 2: 110, 1969.PubMedCrossRefGoogle Scholar
  47. 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.PubMedGoogle Scholar
  48. 48.
    Ford, C. E., and Hamerton, J. L. The chromosomes of man. Nature (London) 178: 1010, 1956.CrossRefGoogle Scholar
  49. 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.PubMedCrossRefGoogle Scholar
  50. 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.PubMedGoogle Scholar
  51. 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.PubMedCrossRefGoogle Scholar
  52. 52.
    Frasier, S. D., Crudd, F. S. Jr., and Farrell, F. J. Buccal smears in the newborn female. J. Pediatr. 65: 222, 1964.PubMedCrossRefGoogle Scholar
  53. 53.
    Freeman, M. V. R., and Miller, O. J. XY gonadal dysgenesis and gonadoblastoma: Report of a case. Obstet. Gynecol. 34: 478, 1969.PubMedGoogle Scholar
  54. 54.
    Gallagher, H. S., and Lewis, R. P. Sequential gonadoblastoma and choriocarcinoma. Obstet. Gynecol. 41: 123, 1973.Google Scholar
  55. 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.CrossRefGoogle Scholar
  56. 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.PubMedCrossRefGoogle Scholar
  57. 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. 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. 59.
    Gordon, R. R., and O’Neill, E. M. Turner’s infantile phenotype. Br. Med. J. 1: 483, 1969.PubMedCrossRefGoogle Scholar
  60. 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.CrossRefGoogle Scholar
  61. 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. 62.
    Haddad, H. M., and Wilkins, L. Congenital anomalies associated with gonadal aplasia. Review of fifty-five cases. Pediatrics 23: 885, 1959.PubMedGoogle Scholar
  63. 63.
    Hamerton, J. L. Human Cytogenetics. New York, Academic Press, 1971, Vol. 1.Google Scholar
  64. 64.
    Hamerton, J. L. Human Cytogenetics. New York, Academic Press, 1971, Vol. 2.Google Scholar
  65. 65.
    Harnden, D. G., and Stewart, J. S. S. The chromosomes in a case of pure gonadal dysgenesis. Br. Med. J. 2: 1285, 1959.PubMedCrossRefGoogle Scholar
  66. 66.
    Hauser, G. A., Keller, M., Keller, T., and Wenner, R. Das Rokitansky-Küster Syndrom. Gynaecologia 151: 111, 1961.PubMedGoogle Scholar
  67. 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.PubMedGoogle Scholar
  68. 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.PubMedCrossRefGoogle Scholar
  69. 69.
    Hecht, F., and MacFarlane, J. P. Mosaicism in Turner’s syndrome reflects the lethality of XO. Lancet 2: 1197, 1969.PubMedCrossRefGoogle Scholar
  70. 70.
    Hoffenberg, R., and Jackson, W. P. U. Gonadal dysgenesis in normal looking females. Br. Med. J. 1: 1281, 1957.PubMedCrossRefGoogle Scholar
  71. 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.PubMedCrossRefGoogle Scholar
  72. 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.PubMedCrossRefGoogle Scholar
  73. 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. 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.PubMedCrossRefGoogle Scholar
  75. 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. 76.
    Jones, H. W. Jr., and Mermut, S. Familial occurrence of congenital absence of the vagina. Am. J. Obstet. Gynecol. 114: 1100, 1972.PubMedGoogle Scholar
  77. 77.
    Jost, A. Problems of fetal endocrinology: The gonadal and hypophyseal hormones. Recent Prog. Res. 8: 379, 1953.Google Scholar
  78. 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. 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. 80.
    Jost, A. A new look at the mechanisms controlling sex differentiation in mammals. Johns Hopkins Med. J. 130: 38, 1972.PubMedGoogle Scholar
  81. 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.PubMedGoogle Scholar
  82. 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.PubMedCrossRefGoogle Scholar
  83. 83.
    Kosowicz, J. Changes in medial tibial condyle—a common finding in Turner’s syndrome. Acta Endocrinol. (kbh.) 31: 321, 1959.Google Scholar
  84. 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. 85.
    Kosowicz, J. The carpal sign in gonadal dysgenesis. J. Clin. Endocrinol. 22: 949, 1962.CrossRefGoogle Scholar
  86. 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.PubMedGoogle Scholar
  87. 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.Google Scholar
  88. 88.
    Lemli, L., and Smith, D. W. The XO syndrome; a study of the differential phenotype in 25 patients. J. Pediatr. 63: 577, 1963.PubMedCrossRefGoogle Scholar
  89. 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. 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. 91.
    Lyon, M. F. Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Hum. Genet. 14: 135, 1962.PubMedGoogle Scholar
  92. 92.
    Lyon, M. F., and Hawkes, S. G. X-linked gene for testicular feminization in the mouse. Nature (London) 227: 1217, 1970.CrossRefGoogle Scholar
  93. 93.
    Mikamo, K., and de Watteville, H. Incidence of sex chromosomal anomalies in newborn infants. Int. J. Fertil. 14: 95, 1969.PubMedGoogle Scholar
  94. 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. 95.
    Mittwoch, U. Sex chromatin. J. Med. Genet. 1: 50, 1964.PubMedCrossRefGoogle Scholar
  96. 96.
    Money, J., and Granoff, D. IQ and the somatic stigmata of Turner’s syndrome. Am. J. Ment. Defic. 70: 69, 1965.PubMedGoogle Scholar
  97. 97.
    Moore, K. L., and Barr, M. L. Smears from the oral mucosa in the detection of chromosomal sex. Lancet 2: 57, 1955.CrossRefGoogle Scholar
  98. 98.
    Nakashima, I., and Robinson, A. Fertility in a 45,X female. Pediatrics 47: 770, 1971.PubMedGoogle Scholar
  99. 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.PubMedGoogle Scholar
  100. 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. 101.
    Nowakowski, H., and Lenz, W. Genetic aspects in male hypogonadism. Rec. Progr. Horm. Res. 17: 53, 1961.PubMedGoogle Scholar
  102. 102.
    Perez-Ballester, B., Greenblatt, R. B., and Byrd, J. R. Familial gonadal dysgenesis. Am. J. Obstet. Gynecol. 107: 1262, 1970.PubMedGoogle Scholar
  103. 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.CrossRefGoogle Scholar
  104. 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.CrossRefGoogle Scholar
  105. 105.
    Race, R. R., and Sanger, R. Xg and sex-chromosome abnormalities. Br. Med. Bull. 25: 99, 1969.PubMedGoogle Scholar
  106. 106.
    Reveno, J. S., and Palubinskas, A. J. Congenital renal abnormalities in gonadal dysgenesis. Radiology 86: 49, 1966.PubMedGoogle Scholar
  107. 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. 108.
    Rosenberg, H. S., Clayton, G. W., and Hsu, T. C. Familial true hermaphroditism. J. Clin. Endocrinol. 23: 203, 1963.CrossRefGoogle Scholar
  109. 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.PubMedCrossRefGoogle Scholar
  110. 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.PubMedGoogle Scholar
  111. 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.CrossRefGoogle Scholar
  112. 112.
    Scully, R. E. Gonadoblastoma. Cancer 25: 1340, 1970.PubMedCrossRefGoogle Scholar
  113. 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. 114.
    Shaffer, J. W. A specific cognitive deficit observed in gonadal aplasia (Turner’s syndrome). J. Clin. Psychoj. 18: 403, 1962.CrossRefGoogle Scholar
  115. 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.PubMedCrossRefGoogle Scholar
  116. 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. 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. 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. 119.
    Singh, R. P., and Carr, D. H. The anatomy and histology of XO human embryos and fetuses. Anat. Rec. 155: 369, 1966.PubMedCrossRefGoogle Scholar
  120. 120.
    Singh, R. P., and Carr, D. H. Anatomic findings in human abortions of known chromosomal constitution. Obstet. Gynecol. 29: 806, 1967.PubMedGoogle Scholar
  121. 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. 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. 123.
    Sohval, A. R. The syndrome of pure gonadal dysgenesis. Am. J. Med. 38: 615, 1965.PubMedCrossRefGoogle Scholar
  124. 124.
    Stanesco, V., Maxmilian, C., Florea, I., and Ciovirnache, M. Trois soeurs avec dysgenesie gonadale pure et caryotype XY. Ann. Endocrinol. 29: 449, 1968.Google Scholar
  125. 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. 126.
    Sternberg, W. H., Barclay, D. L., and Kloepfer, H. W. Familial XY gonadal dysgenesis. N. Engl. J. Med. 278: 695, 1968.PubMedCrossRefGoogle Scholar
  127. 127.
    Taylor, A. I. Sex chromatin in the newborn. Lancet 1: 912, 1963.PubMedCrossRefGoogle Scholar
  128. 128.
    Tjio, J. H., and Levan, A. The chromosome number of man. Hereditas 42: 1, 1956.CrossRefGoogle Scholar
  129. 129.
    Turner, H. H. Syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23: 566, 1938.CrossRefGoogle Scholar
  130. 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.PubMedGoogle Scholar
  131. 131.
    Van Campenhout, J., and Leduc, B. Unusual features in the Rokitansky-Küster-Hauser syndrome. Lancet 2: 928, 1971.PubMedCrossRefGoogle Scholar
  132. 132.
    Willemse, C. H. A patient suffering from Turner’s syndrome and acromegaly. Acta Endocrinol. 39: 204, 1962.PubMedGoogle Scholar
  133. 133.
    Williams, E. D., Engel, E., and Forbes, A. P. Thyroiditis and gonadal dysgenesis. N. Engl. J. Med. 270: 805, 1964.PubMedCrossRefGoogle Scholar
  134. 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. 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

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© Springer Science+Business Media New York 1977

Authors and Affiliations

  • Lawrence R. Shapiro

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