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 Turner Syndrome Gonadal Dysgenesis Male Pseudohermaphroditism Testicular Feminization 
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  1. 1.
    Alexander D, Money J (1965) Reading ability, object constancy, and Turner’s syndrome. Percept Mot Skills 20: 981PubMedCrossRefGoogle Scholar
  2. 2.
    Anger D, Hemet J, Ensel J (1966) Forme familiale du syndrome de Rokitansky-Küster-Hauser. Bull Fed Soc Gynecol Obstet Lang Fr 18: 229PubMedGoogle Scholar
  3. 3.
    Archibald RM, Finby N, deVito F (1959) Endocrine significance of short metacarpals. J Clin Endocrinol 19: 1313CrossRefGoogle Scholar
  4. 4.
    Back F, Karl HL, Macias-Alvarez I (1968) Familial XY gonadal dysgenesis. Lancet 2: 635PubMedCrossRefGoogle Scholar
  5. 5.
    Bahner F, Schwarz G, Harnden DG, Jacobs PA, Heinz HA, Walter K (1960) A fertile female with XO sex chromosome constitution. Lancet 2: 100CrossRefGoogle Scholar
  6. 6.
    Bardin CW, Bullock L, Blackburn WR, Sherins RJ, Vanha-Perttula T (1971) Testosterone metabolism in the androgen-insensitive rat: A model for testicular feminization. In: Part X. The Endocrine System, Birth Defects: Original Article Series, Bergsma D (ed), Baltimore, Williams and Wilkins Co., for the National Foundation-March of Dimes, Vol. VII, No. 6, pp 185–192Google Scholar
  7. 7.
    Barr ML, Bertram EG (1949) A morphological distinction between neurones of the male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature (London) 163: 676CrossRefGoogle Scholar
  8. 8.
    Barr ML, Carr DH, Plunkett ER, Soltan HC, Weins RG (1967) Male pseudo hermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol 99: 1047PubMedGoogle Scholar
  9. 9.
    Benson PF, Gough MH, Polani PE (1965) Lymphangiography and chromosome studies in females with lymphoedema and possible ovarian dysgenesis. Arch Dis Child 40: 27PubMedCrossRefGoogle Scholar
  10. 10.
    Berger R, Abonyi D, Nodot A, Vialatte S, LeJeune J (1970) Hermaphrodisme vrai et “Garcon XX” dans une Fratrie. Res Eur Etudes Clin Biol 15: 330Google Scholar
  11. 11.
    Bergsma D (ed) (1966) Chicago Conference: Standardization in Human Cytogenetics, Birth Defects: Original Article Series. White Plains, The National Foundation-March of Dimes, Vol. II, No. 2Google Scholar
  12. 12.
    Bergsma D (ed) (1972) Paris conference (1971): Standardization in Human Cytogenetics, Birth Defects: Original Article Series. White Plains, The National Foundation-March of Dimes, Vol. VIII, No. 7Google Scholar
  13. 13.
    Blackston RD, Chen ATL (1972) A case of 48, XXXX female with normal intelligence. J Med Genet 9: 230PubMedCrossRefGoogle Scholar
  14. 14.
    Bloch P, Curchod A, Cordey R (1961) Confection d’un neo-vagin par dedoublement du ligament large dans un cas de Rokitansky-Küster-Hauser. Gynaecologia 151: 113Google Scholar
  15. 15.
    Boczkowski K (1970) Further observations on the Syndrome of pure gonadal dysgenesis. Am J Obstet Gynecol 106: 1177PubMedGoogle Scholar
  16. 16.
    Boczkowski K (1970) Pure gonadal dysgenesis and ovarian dysplasia in sisters. Am J Obstet Gynecol 106: 626PubMedGoogle Scholar
  17. 17.
    Brogger A, Strand A (1965) Contribution to the study of the so called pure gonadal dysgenesis. Acta Endocrinol 48: 490PubMedGoogle Scholar
  18. 18.
    Carr DH (1965) Chromosome studies in spontaneous abortions. Obstet Gynecol 26: 308PubMedGoogle Scholar
  19. 19.
    Carr DH (1972) Cytogenetic aspects of induced and spontaneous abortions. Clin Obstet Gynecol 15: 203PubMedCrossRefGoogle Scholar
  20. 20.
    Chemke J, Carmichael R, Stewart JM, Greer RH, Robinson A (1970) Familial XY gonadal dysgenesis. J Med Genet 7: 105PubMedCrossRefGoogle Scholar
  21. 21.
    Chen AT, Chan YK, Falek A (1971) The effects of chromosome abnormalities on birth weight in man. I. Sex chromosome disorders. Hum Hered 21: 543PubMedCrossRefGoogle Scholar
  22. 22.
    Christakos AC, Simpson JL, Younger JB, Christian CD (1969) Gonadal dysgenesis as an autosomal recessive condition. Am J Obstet Gynecol 104: 1027PubMedGoogle Scholar
  23. 23.
    Clayton GW, Smith JF, Rosenberg HS (1958) Familial true hermaphroditism in pre- and post-pubertal genetic females. Hormonal and morphologic studies. J Clin Endocrinol 18: 1349CrossRefGoogle Scholar
  24. 24.
    Cohen MM, Sandberg AA, Takagi N, et al (1967) Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics (Basel) 6: 254CrossRefGoogle Scholar
  25. 25.
    Cohen MM, Shaw MW (1965) Two XY siblings with gonadal dysgenesis and a female phenotype. N Engl J Med 272: 1083CrossRefGoogle Scholar
  26. 26.
    Court Brown WM, Harnden DG, Jacobs PA, Maclean N, Mantle DJ (1964) Abnormalities of the Sex Chromosome Complement in Man. Med. Res. Council, Spec. Rept. Ser. No. 305. London, Her Majesty’s Stationery OfficeGoogle Scholar
  27. 27.
    Dalla Palma L, Cavina C, Borghi A (1967) Radiological aspects of the urinary tract in Turner’s syndrome. Radiol Clin Biol 36: 328Google Scholar
  28. 28.
    Daughaday WH, Laron Z, Pertzelan A, Heins JN (1969) Defective sulfation factor generation: A possible etiological link in dwarfism. Trans Assoc Am Physicians 82: 129PubMedGoogle Scholar
  29. 29.
    Davidoff F, Federman DD (1973) Mixed gonadal dysgenesis. Pediatrics 52: 725PubMedGoogle Scholar
  30. 30.
    Dewhurst CJ, Paine CG, Blank CE (1963) An XY female with absent gonads and vestigial pelvic organs. J Obstet Gynaecol Br Commonw 70: 675PubMedCrossRefGoogle Scholar
  31. 31.
    Donaldson CL, Wegienka LC, Miller D, Forsham PH (1968) Growth hormone studies in Turner’s syndrome. J Clin Endocrinol. 28: 383CrossRefGoogle Scholar
  32. 32.
    Doniach D, Roitt IM, Polani PE (1968) Thyroid antibodies and sex chromosome anomalies. Proc R Soc Med 61: 278PubMedGoogle Scholar
  33. 33.
    Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC (1979) The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95: 399PubMedCrossRefGoogle Scholar
  34. 34.
    Egli F, Stalder G (1973) Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18: 1PubMedGoogle Scholar
  35. 35.
    Elliot GA, Sandler A, Rabinowitz D (1959) Gonadal dysgenesis in three sisters. J Clin Endocrinol 19: 995CrossRefGoogle Scholar
  36. 36.
    Engel E, Forbes AP (1965) Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine 44: 135PubMedCrossRefGoogle Scholar
  37. 37.
    Espiner EA, Veale AMO, Sands VE, Fitzgerald PH (1970) Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283: 6PubMedCrossRefGoogle Scholar
  38. 38.
    Federman DD (1968) Abnormal Sexual Development. Philadelphia, W. B. Saunders CoGoogle Scholar
  39. 39.
    Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2: 142PubMedCrossRefGoogle Scholar
  40. 40.
    Ferguson-Smith MA (1966) X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter’s syndrome. Lancet 2: 475PubMedCrossRefGoogle Scholar
  41. 41.
    Ferguson-Smith MA (1969) Phenotypic aspects of sex chromosome aberrations. Birth Defects: Original Article Series 5: 3Google Scholar
  42. 42.
    Ferguson-Smith MA (1970) Chromosomal abnormalities. II. Sex chromosome defects. Hosp Pract 5: 88Google Scholar
  43. 43.
    Ferguson-Smith MA, Alexander DS, Bowen P, et al (1964) Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner’s syndrome. Cytogenetics 3: 355PubMedCrossRefGoogle Scholar
  44. 44.
    Ferrier PE, Ferner SA, Kelley VC (1970) Sex chromosome mosaicism in disorders of sexual differentiation: incidence in various tissues. J Pediat 76: 739PubMedCrossRefGoogle Scholar
  45. 45.
    Fialkow PJ (1969) Genetic aspects of autoimmunity. Prog Med Genet 7: 117Google Scholar
  46. 46.
    Finby N, Archibald RM (1963). Skeletal abnormalities associated with gonadal dysgenesis. Am J Roentgenol 89: 1222Google Scholar
  47. 47.
    Fischer P, Golab E, Holzner H (1969) XY gonadal dysgenesis and malignancy. Lancet 2: 110PubMedCrossRefGoogle Scholar
  48. 48.
    Forbes AP, Engle E (1963) The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis and their close relatives. Metabolism 12: 428PubMedGoogle Scholar
  49. 49.
    Ford CE, Hamerton JL (1956) The chromosomes of man. Nature (London) 178: 1010CrossRefGoogle Scholar
  50. 50.
    Ford CE, Jones KW, Polani PE, et al. (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet 1: 711PubMedCrossRefGoogle Scholar
  51. 51.
    Fraccaro M, Gemzell CA, Lindsten J (1960) Plasma level of growth hormone and chromosome compiement in four patients with gonadal dysgenesis (Turner’s syndrome). Acta Endocrinol 34: 496PubMedGoogle Scholar
  52. 52.
    Frasier SD, Bashore RA, Mosier HD (1964) Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 64: 740PubMedCrossRefGoogle Scholar
  53. 53.
    Frasier SD, Crudd FS Jr, Farrell FJ (1964) Buccal smears in the newborn female. J Pediatr 65: 222PubMedCrossRefGoogle Scholar
  54. 54.
    Freeman MVR, Miller, OJ (1969). XY gonadal dysgenesis and gonadoblastoma: Report of a case. Obstet Gynecol 34: 478PubMedGoogle Scholar
  55. 55.
    Gallagher HS, Lewis RP (1973) Sequential gonadoblastoma and choriocarcinoma. Obstet Gynecol 41: 123Google Scholar
  56. 56.
    Garron DC, Vander Stoep LR (1969) Personality and intelligence in Turner’s syndrome. A critical review. Arch Gen Psychiat (Chicago) 21: 339CrossRefGoogle Scholar
  57. 57.
    Gartier SM, Liskay RM, Campbell BK, et al (1972) Evidence for two functional X chromosomes in human oocytes. Cell Differ 1: 215CrossRefGoogle Scholar
  58. 58.
    German J (1970) Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses. Clin Genet 1: 15CrossRefGoogle Scholar
  59. 59.
    Goldstein JL, Wilson JD (1974) Hereditary disorders of sexual development in man. In: Birth Defects. Mo-tulsky AG, and Lenz W (eds) Amsterdam, Excerpta Medica, pp 165–173Google Scholar
  60. 60.
    Gordon RR, O’Neill, EM (1969) Turner’s infantile phenotype. Br Med J 1: 483PubMedCrossRefGoogle Scholar
  61. 61.
    Green OC, Miller RR, Garcia O, Hamwi CJ (1969) Virilizing male pseudohermaphroditism associated with abnormal testicular function. J Clin Endocrinol 29: 728CrossRefGoogle Scholar
  62. 62.
    Grumbach MM, Van Wyk JJ (1974) Disorders of sex differentiation. In: Textbook of Endocrinology, 5th ed Williams RH (ed) Philadelphia, W. B. Saunders, Co., pp 423–501Google Scholar
  63. 63.
    Haddad HM, Wilkins L (1959) Congenital anomalies associated with gonadal aplasia. Review of fifty-five cases. Pediatrics 23: 885PubMedGoogle Scholar
  64. 64.
    Hamerton JL (1971) Human Cytogenetics. New York, Academic Press, Vol. 1Google Scholar
  65. 65.
    Hamerton JL (1971) Human Cytogenetics. New York, Academic Press, Vol. 2Google Scholar
  66. 66.
    Harnden DG, Stewart JSS (1959) The chromosomes in a case of pure gonadal dysgenesis. Br Med J 2: 1285PubMedCrossRefGoogle Scholar
  67. 67.
    Hauser GA, Keller M, Keller T, Wenner R (1961) Das Rokitansky-Küster Syndrom. Gynaecologia 151: 111PubMedGoogle Scholar
  68. 68.
    Hauser GA, Schreiner WE (1961) Das Mayer-Ro-kitansky-Küster-Syndrom. Uterus bipartitus solidus rudimentarius cum vagina solida. Schweiz Med Wochenschr 91: 381PubMedGoogle Scholar
  69. 69.
    Hecht F, Jones DL, Delay M, et al (1970) Xq-Turner’s syndrome: Reconsideration of hypothesis that Xp- causes somatic features in Turner’s syndrome. J Med Genet 7: 1PubMedCrossRefGoogle Scholar
  70. 70.
    Hecht F, MacFarlane JP (1969) Mosaicism in Turner’s syndrome reflects the lethality of XO. Lancet 2: 1197PubMedCrossRefGoogle Scholar
  71. 71.
    Hoffenberg R, Jackson WPU (1957) Gonadal dysgenesis in normal looking females. Br Med J 1: 1281PubMedCrossRefGoogle Scholar
  72. 72.
    Hsu LYF, Klinger HP, Weiss J (1967) Influence of nuclear selection criteria on sex chromatin frequency in oral mucosal cells of newborn females. Cytogenetics 6: 371PubMedCrossRefGoogle Scholar
  73. 73.
    Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974) Steriod 5-α-reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science 186: 1213PubMedCrossRefGoogle Scholar
  74. 74.
    Inhorn SL, Opitz JM (1968) Abnormalities of sex development. In: Bloodworth JMB (ed) Endocrine Pathology, Baltimore, Williams and Wilkins, p 529Google Scholar
  75. 75.
    Jacobs PA, Harnden DG, Court Brown WM, Goldstein J, Close HG, MacGregor TN, MacLean N, Strong JA (1960) Abnormalities involving the X chromosome in women. Lancet 1: 1213PubMedCrossRefGoogle Scholar
  76. 76.
    Jones HW Jr, Ferguson-Smith MA, Heller RH (1963) The pathology and cytogenetics of gonadal agenesis. Am J Obstet Gynecol 87: 578PubMedGoogle Scholar
  77. 77.
    Jones HW Jr, Mermut S (1972) Familial occurrence of congenital absence of the vagina. Am J Obstet Gynecol 114: 1100PubMedGoogle Scholar
  78. 78.
    Jost A (1953) Problems of fetal endocrinology: The gonadal and hypophyseal hormones. Recent Prog Res 8: 379Google Scholar
  79. 79.
    Jost A (1946–1947) Recherches sur la differenciation sexuelle de l’embryon de lapin. Arch Anat Microsc Morphol Exp 36: 271Google Scholar
  80. 80.
    Jost A (1959–1960) The role of fetal hormones in prenatal development. In Harvey Lectures, Series 55. New York, Academic Press, pp 201–225Google Scholar
  81. 81.
    Jost A (1972) A new look at the mechanisms controlling sex differentiation in mammals. Johns Hopkins Med J 130: 38PubMedGoogle Scholar
  82. 82.
    Kaplan SA, Snyder WH Jr, Little S (1969) Inguinal hernias in females and the testicular feminization syndrome. Am J Dis Child 117: 243PubMedGoogle Scholar
  83. 83.
    Karp L, Bryant JI, Tagatz G, et al. (1975) The occurrence of gonadal dysgenesis in association with monozygotic twinning. J Med Genet 12(1): 70PubMedCrossRefGoogle Scholar
  84. 84.
    Kosowicz J (1959) Changes in medial tibial condyle—a common finding in Turner’s syndrome. Acta Endocrinol (kbh.) 31: 321Google Scholar
  85. 85.
    Kosowicz J (1960) The deformity of the medial tibial condyle in nineteen cases of gonadal dysgenesis. J Bone Joint Surg [Am] 42-A: 600Google Scholar
  86. 86.
    Kosowicz J (1962) The carpal sign in gonadal dysgenesis. J Clin Endocrinol 22: 949CrossRefGoogle Scholar
  87. 87.
    Leduc B, Van Campenhout J, Simard R (1968) Congenital absence of the vagina. Observations on 25 cases. Am J Obstet Gynecol 100: 512PubMedGoogle Scholar
  88. 88.
    Lejeune J, Gautier M, Turpin R (1959) Etude des chromosomes somatique de neuf enfants mongoliens. CR Acad Sci [D] (Paris) 248: 1721Google Scholar
  89. 89.
    Lemli L, Smith DW (1963) The XO syndrome; a study of the differential phenotype in 25 patients. J Pediatr 63: 577PubMedCrossRefGoogle Scholar
  90. 90.
    Liddle GW, Melmon KL (1974) The adrenals. In: Textbook of Endocrinology, 5th ed Williams RH (ed). Philadelphia, W. B. Saunders Co., pp 233–322Google Scholar
  91. 91.
    Lindsten J, Bowen P, Lee CSN, McKusick VA, Polani PE, Wingate M, Edwards JH, Hamper J, Tippett P, Sanger R, Race RR (1963) Source of the X in XO females: The evidence of Xg. Lancet 1: 558PubMedCrossRefGoogle Scholar
  92. 92.
    Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14: 135PubMedGoogle Scholar
  93. 93.
    Lyon MF, Hawkes SG (1970) X-linked gene for testicular feminization in the mouse. Nature (Lond) 227: 1217CrossRefGoogle Scholar
  94. 94.
    Mikamo K, de Watteville H (1969) Incidence of sex chromosomal anomalies in newborn infants. Int J Fertil 14:95PubMedGoogle Scholar
  95. 95.
    Milner WA, Garlick WB, Fink AJ, Stein AA (1968) True hermaphrodite siblings. J Urol 79: 1003Google Scholar
  96. 96.
    Mittwoch U (1964) Sex chromatin. J Med Genet 1:50PubMedCrossRefGoogle Scholar
  97. 97.
    Money J, Granoff D (1965) IQ and the somatic stigmata of Turner’s syndrome. Am J Ment Defic 70: 69PubMedGoogle Scholar
  98. 98.
    Moore KL, Barr ML (1955) Smears from the oral mucosa in the detection of chromosomal sex. Lancet 2:57CrossRefGoogle Scholar
  99. 99.
    Nakashima I, Robinson A (1971) Fertility in a 45,X female. Pediatrics 47: 770PubMedGoogle Scholar
  100. 100.
    Nance WE, Uchida I (1964) Turner’s syndrome, twinning, and an unusual variant of glucose-6-phosphate dehydrogenase. Am J Hum Genet 16: 380PubMedGoogle Scholar
  101. 101.
    Neu RL, Gardner LI (1969) Abnormalities of the sex chromosomes. In: Endocrine and Genetic Diseases of Childhood, Gardner LI (ed). Philadelphia, W. B. Saunders Co., pp 682–703Google Scholar
  102. 102.
    Nowakowski H, Lenz W (1961) Genetic aspects in male hypogonadism. Rec Progr. Horm Res 17: 53Google Scholar
  103. 103.
    Perez-Ballester B, Greenblatt RB, Byrd JR (1970) Familial gonadal dysgenesis. Am J Obstet Gynecol 107: 1262PubMedGoogle Scholar
  104. 104.
    Polani PE (1970) Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man. Philos. Trans R Soc Lond (B) 259: 187CrossRefGoogle Scholar
  105. 105.
    Polani PE, Angeli R, Giannelli F, et al. (1970) Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes. Nature (Lond.) 227: 613CrossRefGoogle Scholar
  106. 106.
    Race RR, Sanger R (1969) Xg and sex-chromosome abnormalities. Br Med Bull 25: 99PubMedGoogle Scholar
  107. 107.
    Reveno JS, Palubinskas AJ (1966) Congenital renal abnormalities in gonadal dysgenesis. Radiology 86: 49PubMedGoogle Scholar
  108. 108.
    Rimoin DL, Schimke RN (1971) Genetic Disorders of the Endocrine Glands. Saint Louis, The C. V. Mosby CoGoogle Scholar
  109. 109.
    Rosenberg HS, Clayton GW, Hsu TC (1963) Familial true hermaphroditism. J Clin Endocrinol 23: 203CrossRefGoogle Scholar
  110. 110.
    Sanger R, Tippet P, Gavin J (1971) Xg groups and sex abnormalities in people of northern European ancestry. J Med Genet 8: 417PubMedCrossRefGoogle Scholar
  111. 111.
    Sarto G E, Therman E, Patau K (1973) X inactiva-tion in man: A woman with t(Xr-;12q+). Am J Hum Genet 25: 262PubMedGoogle Scholar
  112. 112.
    Schlegel RJ, Neu RL, Leao JC, Gardner LI (1967) XX sex chromosomes in cells cultured from “streak gonads” and in peripheral leukocytes. J Clin Endocrinol 27: 1588CrossRefGoogle Scholar
  113. 113.
    Schwarzacher HG (1974) Fluorescence microscopy of chromosomes and interphase nuclei. In: Methods in Human Cytogenetics, Schwarzacher HG, Wolf U (eds). New York, Heidelberg, Berlin, Springer, pp 83–93CrossRefGoogle Scholar
  114. 114.
    Scully RE (1970) Gonadoblastoma. Cancer 25:1340PubMedCrossRefGoogle Scholar
  115. 115.
    Segali M, Shapiro LR, Freedman W, Boone JA (1973) XO/XY gonadal dysgenesis and gonadoblastoma in childhood. Obstet Gynecol 41: 536Google Scholar
  116. 116.
    Shaffer JW (1962) A specific cognitive deficit observed in gonadal aplasia (Turner’s syndrome). J Clin Psychol 18: 403PubMedCrossRefGoogle Scholar
  117. 117.
    Shapiro LR, Hsu LYF, Hirschhorn K (1970) Extra posterior cervical skin. A possible sign of chromosomal aberration in infancy. J Pediatr 77: 690PubMedCrossRefGoogle Scholar
  118. 118.
    Simpson JL (1975) Gonadal dysgenesis and abnormalities of the human sex chromosomes: Current status of phenotypic-karyotypic correlations. In: Genetic Forms of Hypogonadism Bergsma D (ed). Miami, Symposia Specialists, pp 23–59Google Scholar
  119. 119.
    Simpson JL, Christakos AC, Horwith M, Silverman FS (1971) Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data. In: Part X. The Endocrine System, Birth Defects: Original Article Series, Bergsma D (ed). Baltimore, Williams and Wilkins Co., for The National Foundation-March of Dimes, Vol. VII, No. 6, pp 215–228Google Scholar
  120. 120.
    Simpson JL, New M, Peterson RE, German J (1971) Pseudovaginal perineo-scrotal hypospadius (PPSH) in sibs. In: Part X. The Endocrine System, Birth Defects: Original Article Series, Bergsma D (ed). Baltimore, Williams and Wilkins Co., for The National Foundation-March of Dimes, Vol. VII, No. 6, pp 140–144Google Scholar
  121. 121.
    Singh RP, Carr DH (1966) The anatomy and histology of XO human embryos and fetuses. Anat Rec 155: 369PubMedCrossRefGoogle Scholar
  122. 122.
    Singh RP, Carr DH (1967) Anatomic findings in human abortions of known chromosomal constitution. Obstet Gynecol 29: 806PubMedGoogle Scholar
  123. 123.
    Smith DW, Bartlett C, Harrah LM (1975) Duhamel anomalad and monozygotic twinning: An association between two malformations. Birth Defects Conference. Kansas City, p 92 (abstract)Google Scholar
  124. 124.
    Smith DW, Marden PM, McDonald MJ, Speck-hard M (1962) Lower incidence of sex chromatin in buccal smears of newborn females. Pediatrics 30: 707Google Scholar
  125. 125.
    Sohval AR (1965) The syndrome of pure gonadal dysgenesis. Am J Med 38: 615PubMedCrossRefGoogle Scholar
  126. 126.
    Stanesco V, Maxmilian C, Florea I, Ciovirnache M (1968) Trois soeurs avec dysgenesie gonadale pure et carytotype XY. Ann Endocrinol 29: 449Google Scholar
  127. 127.
    Stempfei RS Jr (1969) Disorders of sexual development. In: Endocrine and Genetic Disease of Childhood, Gardner LI (ed). Philadelphia, W. B. Saunders Co., pp 500–521Google Scholar
  128. 128.
    Sternberg WH, Barclay DL, Kloepfer HW (1968) Familial XY gonadal dysgenesis. N Engl J Med 278:695PubMedCrossRefGoogle Scholar
  129. 129.
    Taylor AI (1963) Sex Chromatin in the newborn. Lancet 1: 912PubMedCrossRefGoogle Scholar
  130. 130.
    Tjio JH, Levan A (1956) The chromosome number of man. Hereditas 42: 1CrossRefGoogle Scholar
  131. 131.
    Turner HH (1938) Syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23: 566CrossRefGoogle Scholar
  132. 132.
    Ullrich O (1949) Turner’s syndrome and status Bonnevie-Ullrich: A synthesis of animal phenogenetics and clinical observations on a typical complex of developmental anomalies. Am J Hum Genet 1: 179PubMedGoogle Scholar
  133. 133.
    Van Campenhout J, Leduc B (1971) Unusual features in the Rokitansky-Küster-Hauser syndrome. Lancet 2:928PubMedCrossRefGoogle Scholar
  134. 134.
    Willemse CH (1962) A patient suffering from Turner’s syndrome and acromegaly. Acta Endocrinol 39: 204PubMedGoogle Scholar
  135. 135.
    Williams ED, Engel E, Forbes AP (1964) Thyroiditis and gonadal dysgenesis. N Engl J Med 270: 805PubMedCrossRefGoogle Scholar
  136. 136.
    Wilson JD, Goldstein JL (1975) Classification of heriditary disorders of sexual development. In: Genetic Forms of Hypogonadism, Bergsma D (ed). Miami, Symposia Specialists, pp 1–16Google Scholar
  137. 137.
    Zurbrügg RP (1969) Congenital adrenal hyperplasia. In: Endocrine and Genetic Diseases of Childhood, Gardner LI (ed). Philadelphia, W. B. Saunders Co., pp 407–428Google Scholar

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  • Lawrence R. Shapiro

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