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Abstract

Genital ambiguity in the newborn is a true medical emergency. Life-threatening crises may occur if a correct diagnosis is not made. The emotional well-being of the family and the long-term psychosocial development of the infant are at stake. The medical, psychologic, and social implications surrounding the delivery of the infant with genital ambiguity make expert advice imperative for the ongoing care of the child and family.

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References

  1. Gulyos BJ, Hodgen GD, Tullner WW, Ross GT: Effects of fetal or maternal hypophysec-tomy on endocrine organs and body weight in infant rhesus monkeys with particular emphasis on oogenesis. Biol Reprod 16: 216–227, 1977

    Article  Google Scholar 

  2. Muller U: Immunological and functional aspects of H-Y antigen. Hum Genet 58: 29–33, 1981

    PubMed  CAS  Google Scholar 

  3. Wachtel SS: H-Y Antigen in the Biology of Sex Determination. New York, Grune Sc Stratton, 1983

    Google Scholar 

  4. Wolf U: Genetic aspects of H-Y antigen. Hum Genet 58: 25–28, 1981

    Article  PubMed  CAS  Google Scholar 

  5. George FW, Wilson JD: Endocrine differentiation of the foetal rabbit ovary in culture. Nature 283: 861–863, 1980

    Article  PubMed  CAS  Google Scholar 

  6. Jost A: Recherches sur la différenciation sexuelle de l’embryon de lapin. III. Role des gonades foetales dans la différenciation sexuelle somatique. Arch Anat Micr Morphol Exp 36: 271, 1947

    Google Scholar 

  7. Jirasek JE: Principles of reproductive embryology. IV. Development of the ovary. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 75–92

    Google Scholar 

  8. Channing CP, Anderson LD, Hoover DJ, Kolena J, Osteen KG, Pomerantz SH, Tonabe K: The role of nonsteroidal regulators in control of oocyte and follicular maturation. Ree Progr Horm Res 38: 331–408, 1982

    CAS  Google Scholar 

  9. Reindollar RH, Byrd JR, Hahn DH, Haseltine FP, McDonough PG: Monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex. In press

    Google Scholar 

  10. Gantt PA, Byrd JR, Greenblatt RB, McDonough PG: A clinical and cytogenetic study of 15 patients with 45,X/46,XY gonadal dysgenesis. Fertil Steril 34: 216–221, 1980

    PubMed  CAS  Google Scholar 

  11. Tho PT, McDonough PG: Gonadal dysgenesis and its variants. Pediatr Clin North Am 28: 309–329, 1981

    PubMed  CAS  Google Scholar 

  12. Simpson JL: Gonadal dysgenesis associated with 46,XX or 46,XY chromosomal complements. In Sciarra JJ (ed): Gynecology and Obstetrics, Vol. 5. Hagerstown, MD, Harper Sc Row, 1981

    Google Scholar 

  13. Espiner EA, Veale AM, Sonds, VE, Fitzgerald PH: Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283: 6–11, 1980

    Article  Google Scholar 

  14. McDonough PG, Byrd JR, Mahesh VB: Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma. Obstet Gynecol 47: 351–355, 1976

    PubMed  CAS  Google Scholar 

  15. Simpson JL: Gonadal dysgenesis. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 259–302

    Google Scholar 

  16. Biglieri EG, Herron MA, Brust N: 17-hydroxylation deficiency in man. J Clin Invest 45: 1946–1954, 1966

    Article  PubMed  CAS  Google Scholar 

  17. New MI: Male pseudohermaphroditism due to 17 -alpha-hydroxylase deficiency. J Clin Invest 49: 1930, 1940

    Article  Google Scholar 

  18. Kater CE, Biglieri EG, Brust N, Chang B, Hirai J: The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17-alpha-hydroxylase syndrome. J Clin Endocrinol Metab 55: 295–302, 1982

    Article  PubMed  CAS  Google Scholar 

  19. de Gennes JL, Jambort S, Turpin G, Elkik F, Roger M: 17-alpha-hydroxylase deficiency syndrome associated with bilateral streak gonads and impaired development of mullerian duct derivatives. Acta Endocrinol 100: 68–76, 1982

    PubMed  Google Scholar 

  20. SaezJM, De Peretti E, Morera AM, Bertrand J: Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization). J Clin Endocrinol Metab 34: 598–600, 1972

    Article  Google Scholar 

  21. SaezJM, de Peretti E, Morera AM, David M, Bertrand J: Familial male pseudohermaphro¬ditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. J Clin Endocrinol Metab 32: 604, 1971

    Article  Google Scholar 

  22. Peterson RE, Imperato-McGinleyJ, GautierT, Sturba E: Male pseudohermaphroditism due to steroid 5 alpha-reductase deficiency. Am J Med 62: 170 - 191, 1977

    Article  PubMed  CAS  Google Scholar 

  23. Maes M, Sultran C, Zerkouni N, Rothwell S, Migeon C: Role of testosterone binding to the androgen receptor in male sexual differentiation of patients with 5 reductase deficiency. J Steroid Biochem 11: 1385–1392, 1979

    Article  PubMed  CAS  Google Scholar 

  24. Simpson JL: Male pseudohermaphroditism. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 183–224

    Google Scholar 

  25. ArmheinJA, Meyer J III, Jones HWJr, Migeon CJ: Androgen insensitivity in man: Evidence for genetic heterogeneity. Proc Natl Acad Sci USA 73: 891–894, 1976

    Article  Google Scholar 

  26. Meyer WJ III, Migeon BR, Migeon CJ: Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sei USA 72: 1469 - 1472, 1975

    Article  Google Scholar 

  27. French FS, Baggett E, Van Wyk JJ, Talbert LM, Hubbard WR, Johnston FR, Weaver RP, Forchielli E, Rao GS, Sarda JR: Testicular feminization: clinical, morphological and biochemical studies. J Clin Endocrinol Metab 25: 661–677, 1965

    Article  PubMed  CAS  Google Scholar 

  28. Morris JMcL: The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65: 1192–1227, 1953

    Google Scholar 

  29. Morris JMcL, Mahesh VB: Further observations on the syndrome “testicular feminization.” Am J Obstet Gynecol 87: 731–748, 1963

    PubMed  CAS  Google Scholar 

  30. Wilson JD, MacDonald PC: Male pseudoher-maphroditism due to androgen resistance: testicular feminization and related syndromes. In StandburyJB, Wyngaarden JB, Fredericksen DS (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1978, p 894

    Google Scholar 

  31. Griffin JE, Durrant JL: The frequency of qualitative receptor defects in 32 families with androgen resistance. Clin Res 29: 505A, 1981

    Google Scholar 

  32. Griffin JE, Wilson JD: The syndromes of androgen resistance. N Engl J Med 302: 198–209, 1979

    Article  Google Scholar 

  33. Kennon BS, Meyer WJ III, Hadjian AJ, Jones HW, Migeon CJ: Syndrome of androgen insensitivity in man: Absence of 5-dihydrotesto- sterone binding protein in skin fibroblasts. J Clin Endocrinol Metab 38: 1143, 1974

    Article  Google Scholar 

  34. Brown TR, Maes M, Rothwell SW, Migeon CJ: Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence of a qualitative abnormality of the receptor. J Clin Endocrinol Metab 55: 61–69, 1982

    Article  PubMed  CAS  Google Scholar 

  35. Griffin JE: Testicular feminization associated with a thermolabile androgen receptor in cultured human fibroblast. J Clin Invest 64: 1624–1631, 1979

    Article  PubMed  CAS  Google Scholar 

  36. Medina M, Chavez B, Perez-Pelacios G: Defective androgen action at the cellular level in androgen resistance syndromes. I. Differences between the complete and incomplete testicular feminization syndromes. J Clin Endocrinol Metab 53: 1243–1246, 1981

    Article  PubMed  CAS  Google Scholar 

  37. Johnson JG, Byrd JR, McDonough PG: True hermaphroditism with peripheral blood and gonadal karyotyping. Obstet Gynecol 54:549– 553, 1979

    Google Scholar 

  38. vanNiekerk WA: True Hermaphroditism. New York, Harper 8c Row, 1974

    Google Scholar 

  39. vanNiekerk WA, Retif AE: The gonads of human true hermaphrodites. Hum Genet 58:117–122, 1981

    CAS  Google Scholar 

  40. Tiltman AJ, Sweerts M: Multiparity in a covert true hermaphrodite. Obstet Gynecol 60: 752–754, 1982

    PubMed  CAS  Google Scholar 

  41. Simpson JL: Sex-reversal in man: 46,XX males and true hermaphrodites. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 225–258

    Google Scholar 

  42. de la Chapelle A: The etiology of maleness in 46,XX men. Hum Genet 58: 105–116, 1981

    Article  PubMed  Google Scholar 

  43. New MI, Levin LS: Congenital adrenal hyperplasia. Clin Biochem 14: 258–272, 1981

    Article  PubMed  CAS  Google Scholar 

  44. Werder EA, Siebenmon RE, Girard J, Zach- mann M, Prader A: The incidence of congenital adrenal hyperplasia in Switzerland—a survey of patients born in 1960 to 1974. Helv Paediatr Acta 35: 5–11, 1980

    PubMed  CAS  Google Scholar 

  45. Zachman M, Tassinari D, Prader A: Clinical and biochemical variability of congenital ad¬renal hyperplasia due to 11 p-hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab 56: 222–229, 1983

    Article  Google Scholar 

  46. Jones HW Jr, Scott WW: The diagnosis and therapy of intersexuality. In Jones HW, Scott WW (eds): Hermaphroditism, Genital Anomalies and Related Endocrine Disorders. Baltimore, Williams 8c Wilkins, 1971, pp 321-–354

    Google Scholar 

  47. Kohn B, Levine L, Pollack MS, Pang S, Loren- zen F, Levy D, Lerner AJ, Rondanini KGF, Dupont B, New M: Late onset steroid 21- hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 55: 817–827, 1982

    Article  PubMed  CAS  Google Scholar 

  48. Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield S, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini GF, Garantini L, Giovanelli G, Virdis R, Bartolotta E, Miglori C, Pintor C, Tato L, Barboni F, New MI: Cryptic 21 -hydroxylase deficiency in families of patients with classical congenital adrenal hy¬perplasia. J Clin Endocrinol Metab 51:1316-–1324, 1980

    Google Scholar 

  49. Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield SE, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini FG, Gargantini L, Giovanelli G, Virdis R, Bartolotta E, Miglori C, Pintor C, Tato L, Barboni F, New MI: Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency. J Clin Endo¬crinol Metab 53: 1193–1198, 1981

    Article  CAS  Google Scholar 

  50. Levin LS, Zachmann M, New MI, Prader A, Pollack MS, O’Neill GJ, Yang SY, Oberfield S, Dupont B: Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group. N Engl J Med 299: 911–915, 1978

    Article  Google Scholar 

  51. Bartter FC: Adrenogenital syndromes from physiology to chemistry (1950-1975). In Lee PA, Plotnick LP, Kowarski AA, Migeon CJ (eds): Congenital Adrenal Hyperplasia. Balti¬more, University Park Press, 1977, p 9

    Google Scholar 

  52. Rosier A, Levine LS, Schneider B, Novogroder M, New MI: The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia. J Clin Endocrinol Metab 45: 500–512, 1977

    Article  PubMed  CAS  Google Scholar 

  53. Bercovici JP, Khouri S, le Fur JM, Saleun JP, Nahoul K, Scholler R: Hormonal profiles of heterozygotes in humans for 21-hydroxylase deficiency defined by HLA B typing. J Steroid Biochem 14: 1049–1054, 1981

    Article  PubMed  CAS  Google Scholar 

  54. New MI, Dupont B, Pollack MS, Levine LS: The biochemical basis for genotyping 21- hydroxylase deficiency. Hum Genet 58:123-–127, 1981

    Google Scholar 

  55. Lee PA, Urban MD, GutaiJP, Migeon CJ: Plasma progesterone, 17-hydroxyprogesterone, androstenedione, and testosterone in prepubertal, pubertal and adult subjects with congenital adrenal hyperplasia as indicators of adrenal suppression. Hormone Res 13: 347, 1980

    Article  PubMed  CAS  Google Scholar 

  56. Jones HW Jr: Nonadrenal female pseudo-hermaphroditism. Pediatr Adol Endocrinol 8: 65, 1981

    Google Scholar 

  57. Verhoeuen ATM, Mastboon JL, Van Leusden HAIM, van der Veiden WHM: Virilization in pregnancy coexisting with an (ovarian) mucinous cystadenoma. A case report and review of virilizing ovarian tumors in pregnancy. Obstet Gynecol Surg 28: 597, 1973

    Article  Google Scholar 

  58. Sternberg WH, Barclay PL: Luteoma of pregnancy. Am J Obstet Gynecol 95: 165–184, 1966

    PubMed  CAS  Google Scholar 

  59. Ishizuka N, Kawashima P, Nakanish T, Sugawa T, Nishihawa I: Statistical observations on genital anomalies of newborns following the administration of progestins to mothers. J Jpn Obstet Gynaecol Soc 9: 271, 1962

    Google Scholar 

  60. Bongiovanni AM, McFadden AJ: Steroids during pregnancy and possible fetal consequences. Fértil Steril 11: 181–186, 1960

    PubMed  CAS  Google Scholar 

  61. Castro-Magana M, Cheruvanky T, Collipp PJ, Ghavami-Miabodi Z, Angelo M, Stewart C: Transient adrenogenital syndrome due to exposure to danazol. Am J Dis Child 135: 1032–1034, 1981

    PubMed  CAS  Google Scholar 

  62. Schwartz RP: Ambiguous genitalia in a term female infant due to exposure to danazol in utero. Am J Dis Child 136: 474, 1982

    PubMed  CAS  Google Scholar 

  63. Klinefelter HF Jr, Reifenstein EC Jr, Albright FC: Syndrome characterized by gynecomastia, aspermatogenesis without A-leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 2: 615–627, 1942

    Article  CAS  Google Scholar 

  64. Simpson JL: Klinefelter syndrome. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 303-–322

    Google Scholar 

  65. Bauman A, Bauman C: Virilizing adrenocortical carcinoma development in a patient with salt-losing congenital adrenal hyperplasia. JAMA 24B: 3140–3141, 1982

    Article  Google Scholar 

  66. Duck SC: Malignancy associated with congenital adrenal hyperplasia. J Pediatr 99:423–424,

    Google Scholar 

  67. Levine LS, New MI: Neoplasms associated with congenital adrenal hyperplasia. J Pediatr 100: 506–507, 1982

    Google Scholar 

  68. Scheike O, Visfield J, Petersen B: Male breast cancer. III. Breast carcinoma in association with the Klinefelter syndrome. Acta Pathol Microbiol Scand 81: 352–358, 1973

    CAS  Google Scholar 

  69. Money J, Hampson JC, HampsonJL: Herma-phroditism: recommendations concerning assignment of sex, change of sex and psychologic management. Bull Johns Hopkins Hosp 97: 284, 1955

    PubMed  CAS  Google Scholar 

  70. Nagamani M, McDonough PG, Ellegood JO, Mahesh VB: Maternal and amniotic fluid 17-hydroxyprogesterone levels during pregnancy: diagnosis of congenital adrenal hyperplasia in utero. Am J Obstet Gynecol 130: 719, 1981

    Google Scholar 

  71. Couillin P, Boue J, Nicolas H, Chervy C, Boue A: Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing. Prenatal Diagn 1: 25–33, 1981

    Article  CAS  Google Scholar 

  72. Evans MI, Chrousos GP, Mann DL, Larsen JW, Loriaux DL, Fletcher JC, Schulman JD: Abnormal genital masculinization in congenital adrenal hyperplasia: Attempted prevention by adrenocortical suppression in utero. Presented at the 30th Annual Meeting of Society for Gynecologic Investigation, Washington, D.C., 1982

    Google Scholar 

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Reindollar, R.H., McDonough, P.G. (1985). The Child with Ambiguous Genitalia. In: Lavery, J.P., Sanfilippo, J.S. (eds) Pediatric and Adolescent Obstetrics and Gynecology. Clinical Perspective in Obstetrics and Gynecology. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-5064-7_5

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  • DOI: https://doi.org/10.1007/978-1-4612-5064-7_5

  • Publisher Name: Springer, New York, NY

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