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Current views on evaluation, management, and gender assignment of the intersex infant

Nature Clinical Practice Urology volume 1, pages 38–43 (2004)Cite this article

Abstract

In recent years, traditional views regarding the management of infants with intersex conditions have been challenged. Some of these patients have gender dysphoria and gender conversion, although most adults with intersex consider themselves to be either male or female. Hormonal and genetic factors may have a more important role in gender identity and sexual satisfaction than previously recognized, whereas the importance of phallus size to male gender identity and sexual satisfaction may have been overestimated. The impact of androgen imprinting on the developing brain is uncertain, but it is likely to be significant. The issue of genital surgery in infancy is controversial, although many adult patients concur that infancy is the best time for such procedures. Several reports indicate that the functional outcomes of genital surgery are poor, although more recently developed surgical techniques may achieve better results. Good communication between physicians, patients, and families regarding intersex conditions is paramount. We review current understanding of the evaluation and management of intersex conditions.

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Figure 1: Newborn infant with genetic mosaicism (45XO/46XY) and mixed gonadal dysgenesis.
Figure 2: Newborn genetic male (46XY) with complete androgen insensitivity syndrome and female external genitalia.
Figure 3: Newborn genetic female (46XX) with congenital adrenal hyperplasia due to complete 21-hydroxylase deficiency.

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References

  1. Miller WL (1988) Molecular biology of steroid hormone synthesis. Endocr Rev 9: 292–318

    Article  Google Scholar 

  2. McPhaul MJ and Griffin JE (1999) Male pseudohermaphroditism caused by mutations of the human androgen receptor. J Clin Endocrinol Metab 84: 3435–3441

    CAS  PubMed  Google Scholar 

  3. Forest MG (2001) Ambiguous genitalia/Intersex: Endocrine aspects. In Pediatric Urology, 623–658 (Eds Gearhart JP, Rink RC, Mouriquand PDE). Philadelphia: WB Saunders

    Google Scholar 

  4. Therrell BL Jr et al. (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 101: 583–590

    Article  Google Scholar 

  5. Kappy MS et al. (1994) The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence, edn 4, 573–715. Springfield, IL: Charles C Thomas Publishers Ltd

    Google Scholar 

  6. Rajfer J and Walsh PC (1976) The incidence of intersexuality in patients with hypospadias and cryptorchidism. J Urol 116: 769–770

    Article  CAS  Google Scholar 

  7. Kaefer M et al. (1999) The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. J Urol 162: 1003–1006

    Article  CAS  Google Scholar 

  8. Nicolino M et al. (2004) Clinical and biological assessments of the undervirilized male. BJU Int 93 (Suppl 3): 20–25

    Article  Google Scholar 

  9. Haqq CM and Donahoe PK (1998) Regulation of sexual dimorphism in mammals. Physiol Rev 78: 1–33

    Article  CAS  Google Scholar 

  10. Quigley CA (2001) Genetic basis of sex determination and sex differentiation. In Endocrinology, 1926–1946 (Eds Degroot LJ and Jameson JL). Philadelphia: WB Saunders

    Google Scholar 

  11. Lee MM et al. (2003) MIS/AMH in the assessment of cryptorchidism and intersex conditions. Mol Cell Endocrinol 211: 91–98

    Article  CAS  Google Scholar 

  12. Wright NB et al. (1995) Imaging children with ambiguous genitalia and intersex states. Clin Radiol 50: 823–829

    Article  CAS  Google Scholar 

  13. Secaf E et al. (1994) Role of MRI in the evaluation of ambiguous genitalia. Pediatr Radiol 24: 231–235

    Article  CAS  Google Scholar 

  14. Economy KE et al. (2002) A comparison of MRI and laparoscopy in detecting pelvic structures in cases of vaginal agenesis. J Pediatr Adolesc Gynecol 15: 101–104

    Article  Google Scholar 

  15. Greaves R et al. (2004) Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants. J Paediatr Child Health 40: 233–236

    Article  CAS  Google Scholar 

  16. Money J et al. (1957) Imprinting and the establishment of gender role. Arch Neurol Psychiatr 77: 333–336

    Article  CAS  Google Scholar 

  17. Zucker KJ (2002) Evaluation of sex- and gender-assignment decisions in patients with physical intersex conditions: a methodological and statistical note. J Sex Marital Ther 28: 269–274

    Article  Google Scholar 

  18. Money J and Ehrhardt AA (1972) Man and Woman, Boy and Girl: Differentiation and Dimorphism of Gender Identity from Conception to Maturity. Baltimore: Johns Hopkins University Press

  19. Diamond M (1999) Pediatric management of ambiguous and traumatized genitalia. J Urol 162: 1021–1028

    Article  CAS  Google Scholar 

  20. Chase C (1999) Rethinking treatment for ambiguous genitalia. Pediatr Nurs 25: 451–455

    CAS  PubMed  Google Scholar 

  21. Aaronson I (2004) RE: Attitudes of adult 46, XY intersex persons to clinical management policies. J Urol 171: 1619

    Article  Google Scholar 

  22. Chase C (2002) What is the agenda of the intersex patient advocacy movement? Endocrinologist 13: 240–242

    Article  Google Scholar 

  23. Eugster EA (2004) Reality vs recommendations in the care of infants with intersex conditions. Arch Pediatr Adolesc Med 158: 428–429

    Article  Google Scholar 

  24. Gourlay WA et al. (1994) Gonadal tumors in disorders of sexual differentiation. Urology 43: 537–540

    Article  CAS  Google Scholar 

  25. Krasna IH et al. (1992) Risk of malignancy in bilateral streak gonads: the role of the Y chromosome. J Pediatr Surg 27: 1376–1380

    Article  CAS  Google Scholar 

  26. Imperato-McGinley J et al. (1979) Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med 300: 1233–1237

    Article  CAS  Google Scholar 

  27. Mendonca BB et al. (1996) Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine 75: 64–76

    Article  CAS  Google Scholar 

  28. Odame I et al. (1992) Early diagnosis and management of 5 alpha-reductase deficiency. Arch Dis Child 67: 720–723

    Article  CAS  Google Scholar 

  29. Migeon CJ et al. (2002) 46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics 110: e32

    Article  Google Scholar 

  30. Schober JM (2001) Sexual behaviors, sexual orientation and gender identity in adult intersexuals: a pilot study. J Urol 165: 2350–2353

    Article  CAS  Google Scholar 

  31. Hines M et al. (2004) Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res 41: 75–81

    Article  Google Scholar 

  32. Meyer-Bahlburg HF et al. (2004) Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia. Arch Sex Behav 33: 97–104

    Article  Google Scholar 

  33. Reiner WG and Gearhart JP (2004) Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med 350: 333–341

    Article  CAS  Google Scholar 

  34. Meyer-Bahlburg HF et al. (2004) Attitudes of adult 46, XY intersex persons to clinical management policies. J Urol 171: 1615–1619

    Article  CAS  Google Scholar 

  35. Wisniewski AB et al. (2000) Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab 85: 2664–2669

    CAS  PubMed  Google Scholar 

  36. Migeon CJ et al. (2002) Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 110: e31

    Article  Google Scholar 

  37. Wisniewski AB and Migeon CJ (2002) Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. Semin Reprod Med 20: 297–304

    Article  Google Scholar 

  38. Reilly JM and Woodhouse CR (1989) Small penis and the male sexual role. J Urol. 142: 569–571

    Article  CAS  Google Scholar 

  39. Crouch NS et al. (2004) Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study. BJU Int 93: 135–138

    Article  CAS  Google Scholar 

  40. Creighton SM et al. (2001) Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood. Lancet 358: 124–125

    Article  CAS  Google Scholar 

  41. Minto CL et al. (2003) The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet 361: 1252–1257

    Article  Google Scholar 

  42. Gearhart JP et al. (1995) Measurement of pudendal evoked potentials during feminizing genitoplasty: technique and applications. J Urol 153: 486–487

    Article  CAS  Google Scholar 

  43. Minto CL et al. (2003) Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril 80: 157–164

    Article  Google Scholar 

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Authors and Affiliations

  1. Fellow, the Brady Urological Institute, Johns Hopkins Hospital, Baltimore

    Caleb P Nelson

  2. Professor and Director, of Pediatric Urology at the Brady Urological Institute, Johns Hopkins Hospital, Baltimore

    John P Gearhart

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  1. Caleb P Nelson
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  2. John P Gearhart
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Correspondence to Caleb P Nelson.

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The authors receive funding and research support from Cook Urological, ACMI Corporation and Boston Scientific Corporation.

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Nelson, C., Gearhart, J. Current views on evaluation, management, and gender assignment of the intersex infant. Nat Rev Urol 1, 38–43 (2004). https://doi.org/10.1038/ncpuro0028

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