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Management of Infants Born with Ambiguous Genitalia

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Pediatric Endocrinology

Part of the book series: Contemporary Endocrinology ((COE))

Abstract

The birth of an infant with ambiguous genitalia is a crisis for parents as well as the primary care physician. In some instances, parents have been forewarned by the results of genetic testing or ultrasound examinations of the uterus during the fetal period. In the absence of prior knowledge, parents must be informed at the first opportunity that the genital ambiguity prevents precise identification of their infant’s sex. Because this is an extremely traumatic experience, the physician should emphasize any positive aspects of the infant such as good health including normal cardiac, pulmonary and neurologic function. Also, they are told that chromosome analysis and other diagnostic tests are needed to identify the cause of the problem and to provide a basis for sound sex assignment decisions. They need to be reassured that they will be kept completely informed and that they will help in the decision making process once the tests are completed. Under ideal circumstances, an experienced team of specialists in pediatric endocrinology, pediatric urology, genetics, psychology, and radiology come together promptly to help parents and primary care physicians understand which tests are being ordered and how these studies will help in deciding sex assignment. When the information becomes available, parents should be given accurate detailed information about the infant’s karyotype, genital anatomy, the hormone levels and, when known, the gonadal histology. Parental understanding and involvement are key elements to successful long-term care of the child. Despite every effort to be inclusive, the infant is the sole member of the team with no input during the decision-making process.

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References

  1. Vilain E. Genetics of sexual development. Ann Rev Sex Res 2000; 1: 1–25.

    Google Scholar 

  2. Grumbach MM, Conte FA. Disorders of sex differentiation. In: Williams Textbook of Endocrinology (Wilson JD, ed.) Sanders, 1998.

    Google Scholar 

  3. Witchel SS, Lee PA. Ambiguous genitalia. In: Pediatric Endocrinology ( Sperling MA, ed.) WB Sanders, Philadelphia, 1996, pp. 31–50.

    Google Scholar 

  4. Lee PA. Should We Change our Approach to Ambiguous Genitalia. The Endocrinologist 2001; 11: 118–123.

    Article  Google Scholar 

  5. Quigley CA. Chapter 140 In: Genetic Bases of Sex Determination and Differentiation, 4th ed. ( De Groot LJ, ed.) Saunders, Philadelphia, 2001, pp. 1926–1946.

    Google Scholar 

  6. Migeon CJ, Berkovitz G, Brown T. Sexual differentiation and ambiguity. In: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence ( Kappy MS, Bilzzard RM, Migeon CJ, eds.) Charles C. Thomas, Springfield, 1994; pp. 659–662.

    Google Scholar 

  7. Root A. Genetic errors of sexual differentiation. Adv Pediatr 1999; 46–67.

    Google Scholar 

  8. McElreavey K, Barbaux S, Ion A, Fellous M. The genetic basis of murine and human sex determination: A review. Heredity 1995; 75: 599–611.

    Article  PubMed  CAS  Google Scholar 

  9. McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet 1999; 89: 176.

    Article  PubMed  CAS  Google Scholar 

  10. Zucker KJ. Intersexuality and gender identity differentiation. Ann Rev Sex Res 1999; 10: 1–69.

    CAS  Google Scholar 

  11. Meyer-Bahlburg HFL. Gender assignment and reassignment in 46 XY pseudohermaphrodites and related conditions. J Clin Endocrinol Metab 1999; 4: 3455–3458.

    Article  Google Scholar 

  12. Meyer-Bahlburg HFL. Gender assignment in intersexuality. J Psychol Hum Sex 1998; 10: 1–21.

    Article  Google Scholar 

  13. Udry JR. Biological Limits of Gender Construction. Am Sociol Rev 2000; 65: 443–457.

    Article  Google Scholar 

  14. Koopman P, Gubbay J, Vivian N, Goodfellow PN, Lovell-Bodge R. Male development of chromosomally female mice transgenic for Sry. Nature 1991; 117–121.

    Google Scholar 

  15. Koopman P. Sry and Sox 9: Mammalian testes-determining genes. Cell Mol Life Sc 1999; 55: 839–856.

    Google Scholar 

  16. Vainio S, Keikkila M, Chin N, McMahon AP. Female development in mammals is regulated by Wnt-4 signalling. Nature 1999; 397: 405–409.

    Article  PubMed  CAS  Google Scholar 

  17. Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Autosomal XX sex reversal caused by duplication of SOX 9. Am J Med Gen 1999; 87: 349–359.

    Article  CAS  Google Scholar 

  18. Bardoni B, Zanaria E, Guioli S, et al. A dosage-sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994; 7: 497–501.

    Article  PubMed  CAS  Google Scholar 

  19. Arn P, Chen H, Tuck-Miller CM, Mankinen C, Wachtel G, Li S et al. SRXX; A sex reversing locus in Xp21.2–p22.11. Hum Genet 1994; 93: 389–393.

    Article  PubMed  CAS  Google Scholar 

  20. Wieacker P, Missbach D. Sex reversal in a child with karyotype 46 XY, dup (1) (pp22.3 p32.3). Clin Genet 1996; 49: 271–273.

    Article  PubMed  CAS  Google Scholar 

  21. Jordan BK, Mohammed M, Ching ST, Dilot E, Chen XN, Dewing P. Upregulation of Wnt-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet 2001; 68: 1102–1109.

    Article  PubMed  CAS  Google Scholar 

  22. Zanaria E, Muscatelli F, Bardoni B, et al. An usual member of the nuclear hormone receptor super family responsibility for x-linked adrenal hypoplasia congenita. Nature 1994; 372: 635–641.

    Article  PubMed  CAS  Google Scholar 

  23. Imperato-McGinley J, Guerrero L, Gautier T, et al. Steroid 5-a reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science 1974; 186: 1213.

    Article  PubMed  CAS  Google Scholar 

  24. Peterson RE, Imperato-McGinley J, Gautier T, Sturla E. Male pseudohermaphroditism due to steroid 5 alpha reductase deficiency. American Journal of Medicine 1977; 62: 170–191.

    Article  PubMed  CAS  Google Scholar 

  25. Imperato-McGinley J, Peterson RE, Gautier T, et al. Androgens and the evaluation of male-gender identity among male pseydohermaphrodites with 5 á reductase deficiency. N Engl J Med 1979; 300 (1233).

    Google Scholar 

  26. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245.

    Article  PubMed  CAS  Google Scholar 

  27. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995; 80: 3689–3697.

    Article  PubMed  CAS  Google Scholar 

  28. Müller J, et al. Management of males with 45X/46XY gonadal dysgenesis. Horm Res 1999; 52: 11.

    Article  PubMed  Google Scholar 

  29. Sarafoglou K, Ostrer H. Familial sex reversal: A review. J Clin Endocrinol Metab 2000; 85: 483–493.

    Article  CAS  Google Scholar 

  30. Quigley CA, DeBellis A, Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: Historical, clinical, and molecular perspectives. Endocr Rev 1995; 16: 271–321.

    PubMed  CAS  Google Scholar 

  31. Committee on Genetics Endocrinology and Urology, American Academy of Pediatrics. Evaluation of the newborn with developmental anomalies of the external genitalia. Pediatrics 2000; 106: 138.

    Google Scholar 

  32. Feldman KW, Smith DW. Fetal phallic growth and penile standards for newborn male infants. J Pediatr 1975; 86: 395.

    Article  PubMed  CAS  Google Scholar 

  33. Lee PA, Witchel SF. Adult 46XX males with adrenal hyperplasia: Outcome data. Pediatr Res 2000; 47: 134A.

    Google Scholar 

  34. Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL. Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size-why sex reversal is not indicated. J Pediatr 1999; 134: 579–583.

    Article  PubMed  CAS  Google Scholar 

  35. Reilly JM, Woodhouse CR. Small penis and the male sexual role. J Urol 1989; 142: 569–571.

    PubMed  CAS  Google Scholar 

  36. Van Wyk JJ, Calikoglu AS. Should boys with micropenis be reared as girls? J Pediatr 1999; 134: 537–538.

    Article  Google Scholar 

  37. Mazur T, Sandberg DE, Perrin MA, et al. Patients with micro or small penis reared male: Adult quality of life and psychosocial outcomes The Endocrine Society Annual Meeting Toronto, ON 2000.

    Google Scholar 

  38. Money J, Lehne GK, Pierre-Jerome F. Micropenis: gender, erotosexual coping strategy, and behavioral health in nine pediatric cases followed to adulthood. Compr Psychiatry 1985; 26: 29–42.

    Article  PubMed  CAS  Google Scholar 

  39. Money J, Mazur T, Abrams C, Norman BF. Micropenis, family mental health, and neonatal mangment: a report on 14 patients reared as girls. J Prev Psychiatry 1981; 1 (17): 27.

    Google Scholar 

  40. Money J, Ehrhardt AA. Man and Woman, Boy and Girl. Differentiation and Dimorphism of Gender Identity from Conception to Maturity. Baltimore: 1972, pp. 117–146.

    Google Scholar 

  41. Chase C. Surgical progress is not the answer to intersexuality. J Clin Ethics 1998; 9: 385–392.

    PubMed  CAS  Google Scholar 

  42. Intersex Society of North America. Recommendations for Treatment: Intersex Infants and Children. 1985. San Francisco, ISNA. Ref Type: Pamphlet

    Google Scholar 

  43. Meyer-Bahlburg HFL, Migeon CJ, Berkovitz GD, Gearhart JP, and Wisniewski AB Satisfaction with gender and genital status and attitude to management policies in adult 46 XY pseudohermaphrodites International Academy Sex Research 25th Annual Meeting Stony Brook, NY, 1999.

    Google Scholar 

  44. Money J, Devore H, Norman BF. Transition: Longitudinal outcome study of 33 male hermaphrodites assigned girls. J Sex Marit Ther 1986; 12: 165–181.

    Article  CAS  Google Scholar 

  45. Money J, Norman BF. Gender indentity and gender transposition: Longitudinal outcome of 24 male hermaphrodites assigned as boys. J Sex Marit Ther 1987; 13: 75–92.

    Article  CAS  Google Scholar 

  46. Schober JM. A surgeon’s response to the intersex controversy. J Clin Ethics 1998; 9: 393–397.

    PubMed  CAS  Google Scholar 

  47. Creighton S. Surgery for intersex. J R Soc Med 2001; 94: 218–220.

    PubMed  CAS  Google Scholar 

  48. Colapinto J. As Nature Made Him: The Boy Who Was Raised as a Girl. New York: Harper Collins, 2000.

    Google Scholar 

  49. Diamond M, Sigmundson HK. Sex reassignment at birth. Long-term review and clinical implications. Arch Pediatr Adolesc Med 1997; 151: 298.

    Article  PubMed  CAS  Google Scholar 

  50. Diamond M. Sexual identity and sexual orientation in children with traumatized or ambiguous genitalia. J Sex Res 1997; 34: 199–211.

    Article  Google Scholar 

  51. Diamond M. Critical evaluation of the ontogeny of human sexual behavior. Q Rev Biol 1965; 40: 147–175.

    Article  PubMed  CAS  Google Scholar 

  52. Diamond M, Sigmundson HK. Management of intersexuality: guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 1997; 151: 1046–1050.

    Article  PubMed  CAS  Google Scholar 

  53. Money J. Ablatio penis: nature/nurture redux. In: Sin, Science, and the Sex Police: Essays on Sexology and Sexosophy ( Money J, ed.) Prometheus Books, Amherst, NY, 1999: pp. 297–326.

    Google Scholar 

  54. Bradley SJ, Oliver GD, Chermick AB, Zucker KJ. Experiment of nurture: Ablatio penis at 2 months, sex-reassignment at 7 months, and a psychosexual follow-up in young adulthood. Pediatrics 1998; 102.

    Google Scholar 

  55. Ehrhardt AA, Evers K, Money J. Influence of androgen and some aspects of sexually dimorphic behavior in women with the late-treated adrengenital syndrome. Johns Hopkins Med J 1968; 123: 115–122.

    PubMed  CAS  Google Scholar 

  56. Ehrhardt AA, Epstein R, Money J. Fetal androgens and female gender identity in the early treated adrenogenital syndrome. Johns Hopkins Med J 1968; 122: 160–167.

    PubMed  CAS  Google Scholar 

  57. Meyer-Bahlburg HFL, Gruen RS, New MI, et al. Gender change from female to male in classical Congenital Adrenal Hyperplasia. Horm Behav 1996; 30: 319–322.

    Article  PubMed  CAS  Google Scholar 

  58. Meyer-Bahlburg HFL. Variants of gender differentiation. In: Outcomes in Developmental Psychopathology ( Steinhausen HC, Verhulst FE, eds). Oxford University Press, New York, 1999, pp. 298–313.

    Google Scholar 

  59. Kessler SJ. Lessons for the Intersex. Rutgers University Press, Piscatway, 1998.

    Google Scholar 

  60. Fausto-Sterling A. Sexing the Body: Gender Politics and the Construction of Sexuality. Basic Books, New York, 2000.

    Google Scholar 

  61. Herdt G (ed). Third Sex, Third Gender: Beyond Sexual Dimorphism in Culture and History. Zone Books, New York, 1996.

    Google Scholar 

  62. Reiner WG. Sex assignment in the neonate with intersex or inadequate genitalia. Pediatr Adolesc Med 1997; 151: 1044.

    Article  CAS  Google Scholar 

  63. Dreger AD. Hermaphrodites and the Medical Intervention of Sex. Harvard University Press, Cambridge, MA, 1998.

    Google Scholar 

  64. Howe EG. Special issue Intersexuality J Clin Ethics 1998; 9: 4.

    Google Scholar 

  65. Wisniewski AB, Migeon CJ, Meyer-Bahlburg HFL, et al. Complete androgen insensitivity syndrome: Long-term medical, surgical, and pyschosexual outcome. J Clin Endocrinol Metab 2000; 85: 2664–2669.

    Article  PubMed  CAS  Google Scholar 

  66. McCullogh LB A framework for the ethically justified clinical management of intersex conditions Pediatric Gender Reassignment: A Critical Reapprasial Dallas, TX 1999.

    Google Scholar 

  67. Sax L. How common is intersex? A response to Anne Fausto, Sterling, J Sex Research 2002; 39: 174–178.

    Article  Google Scholar 

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Authors
  1. Margaret H. MacGillivray MD
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  2. Tom Mazur PsyD
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Editors and Affiliations

  1. Section of Pediatric Endocrinology, University of Chicago Medical Center, Chicago, IL, USA

    Sally Radovick MD

  2. Division of Endocrinology, Children’s Hospital of Buffalo, Buffalo, NY, USA

    Margaret H. MacGillivray MD

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MacGillivray, M.H., Mazur, T. (2003). Management of Infants Born with Ambiguous Genitalia. In: Radovick, S., MacGillivray, M.H. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-336-1_24

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  • DOI: https://doi.org/10.1007/978-1-59259-336-1_24

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-61737-268-1

  • Online ISBN: 978-1-59259-336-1

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