The Indian Journal of Pediatrics

, Volume 84, Issue 9, pp 700–708 | Cite as

Controversies of Sex Re-assignment in Genetic Males with Congenital Inadequacy of the Penis

Review Article


Sex assignment in 46XY genetic male children with congenital inadequacy of the penis (CIP) is controversial. Traditionally, children with penile length less than 2 cm at birth are considered unsuitable to be raised as males. They are typically re-assigned to female-sex and feminizing genitoplasty is usually done in infancy. However, the concept of cerebral androgen imprinting has caused paradigm shift in the philosophy of sex re-assignment. Masculinization of the brain, rather than length of the penis, is the modern criterion of sex re-assignment in CIP. This review summarizes the current understanding of the complex issue. In 46XY children with CIP, male-sex assignment appears appropriate in non-hormonal conditions such as idiopathic micropenis, aphallia and exstrophy. Female-sex re-assignment appears acceptable in complete androgen insensitivity (CAIS), while partial androgen insensitivity syndrome (PAIS) patients are highly dissatisfied with the assignment of either sex. Children with 5-alpha reductase deficiency are likely to have spontaneous penile lengthening at puberty. Hence, they are better raised as males. Although female assignment is common in pure gonadal dysgenesis, long-term results are not known to justify the decision.


Disorders of sex development Ambiguous genitalia Androgen insensitivity syndrome Sex re-assignment Penile length Micropenis Aphallia Penile agenesis Exstrophy Sexual function Intersex disorders 


Compliance with Ethical Standards

Conflict of Interest


Source of Funding



Views expressed in this article reflect the author’s understanding of sex re-assignment and they do not represent any official recommendations.


  1. 1.
    van der Zwan YG, Callens N, van Kuppenveld J, et al. Dutch study group on DSD. Long-term outcomes in males with disorders of sex development. J Urol. 2013;190:1038–42.CrossRefPubMedGoogle Scholar
  2. 2.
    Berglund A, Johannsen TH, Stochholm K, et al. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab. 2016;101:4532–40.CrossRefPubMedGoogle Scholar
  3. 3.
    Gordetsky J, Joseph DB. Cloacal exstrophy: a history of gender reassignment. Urology. 2015;86:1087–9.CrossRefPubMedGoogle Scholar
  4. 4.
    Fisher AD, Ristori J, Fanni E, Castellini G, Forti G, Maggi M. Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma. J Endocrinol Investig. 2016;39:1207–24.CrossRefGoogle Scholar
  5. 5.
    Meyer-Bahlburg HF. Gender assignment and reassignment in 46,XY pseudohermaphroditism and related conditions. J Clin Endocrinol Metab 1999;84:3455–3458.Google Scholar
  6. 6.
    Kraus C. Am I my brain or my genitals? A nature-culture controversy in the hermaphrodite debate from the mid-1960s to the late 1990s. Gesnerus. 2011;68:80–106.PubMedGoogle Scholar
  7. 7.
    Meyer-Bahlburg HF. Gender assignment and reassignment in intersexuality: controversies, data, and guidelines for research. Adv Exp Med Biol. 2002;511:199–223.CrossRefPubMedGoogle Scholar
  8. 8.
    Sudai M. Changing ethical and legal norms in the management of differences of sex development Lancet Diabetes Endocrinol. 2017. [Epub ahead of print]; doi: 10.1016/S2213-8587(17)30043-8.
  9. 9.
    Meyer-Bahlburg HF. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005;34:423–38.CrossRefPubMedGoogle Scholar
  10. 10.
    Reiner WG. Psychosexual development in genetic males assigned female: the cloacal exstrophy experience. Child Adolesc Psychiatr Clin N Am. 2004;13:657–74.CrossRefPubMedGoogle Scholar
  11. 11.
    Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med. 2004;350:333–41.CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Money J. Gender: history, theory and usage of the term in sexology and its relationship to nature/nurture. J Sex Marital Ther. 1985;11:71–9.CrossRefPubMedGoogle Scholar
  13. 13.
    Money J. The concept of gender identity disorder in childhood and adolescence after 39 years. J Sex Marital Ther. 1994;20:163–77.CrossRefPubMedGoogle Scholar
  14. 14.
    Wallen K. Nature needs nurture: the interaction of hormonal and social influences on the development of behavioral sex differences in rhesus monkeys. Horm Behav. 1996;30:364–78.CrossRefPubMedGoogle Scholar
  15. 15.
    Colapinto J. As nature made him: the boy who was raised as a girl. New York: Harper Collins; 2001.Google Scholar
  16. 16.
    Goldi T. The man who invented gender: engaging the ideas of John Money. Vancouver: UBC Press; 2014.Google Scholar
  17. 17.
    Diamond M. Sexual identity, monozygotic twins reared in discordant sex roles and a BBC follow-up. Arch Sex Behav. 1982;11:181–6.CrossRefPubMedGoogle Scholar
  18. 18.
    Saraswat A, Weinand JD, Safer JD. Evidence supporting the biologic nature of gender identity. Endocr Pract. 2015;21:199–204.CrossRefPubMedGoogle Scholar
  19. 19.
    Hines M, Pasterski V, Spencer D, et al. Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour. Philos Trans R Soc Lond Ser B Biol Sci. 2016;371:20150125.CrossRefGoogle Scholar
  20. 20.
    Hrabovszky Z, Hutson JM. Androgen imprinting of the brain in animal models and humans with intersex disorders: review and recommendations. J Urol. 2002;168:2142–8.CrossRefPubMedGoogle Scholar
  21. 21.
    Hines M. Prenatal testosterone and gender-related behaviour. Eur J Endocrinol. 2006;155:S115–21.CrossRefPubMedGoogle Scholar
  22. 22.
    Oliveira DE, da Cruz ML, Liguori R, et al. Neophalloplasty in boys with aphallia: a systematic review. J Pediatr Urol. 2016;12:19–24.CrossRefPubMedGoogle Scholar
  23. 23.
    Bluebond-Langner R, Redett RJ. Phalloplasty in complete aphallia and ambiguous genitalia. Semin Plast Surg. 2011;25:196–205.CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    D'Hauwers KW, Feitz WF, Kremer JA. Bladder exstrophy and male fertility: pregnancies after ICSI with ejaculated or epididymal sperm. Fertil Steril. 2008;89:387–9.CrossRefPubMedGoogle Scholar
  25. 25.
    Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab. 2005;18:549–53.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Nordenström A, Servin A, Bohlin G, Larsson A, Wedell A. Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002;87:5119–24.CrossRefPubMedGoogle Scholar
  27. 27.
    Pasterski VL, Geffner ME, Brain C, Hindmarsh P, Brook C, Hines M. Prenatal hormones and postnatal socialization by parents as determinants of male-typical toy play in girls with congenital adrenal hyperplasia. Child Dev. 2005;76:264–78.CrossRefPubMedGoogle Scholar
  28. 28.
    Hassett JM, Siebert ER, Wallen K. Sex differences in rhesus monkey toy preferences parallel those of children. Horm Behav. 2008;54:359–64.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB. Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year follow-up survey of pediatric urologists. J Urol. 2011;186:1642–8.CrossRefPubMedGoogle Scholar
  30. 30.
    Wisniewski AB, Migeon CJ, Gearhart JP, et al. Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. Horm Res. 2001;56:3–11.PubMedGoogle Scholar
  31. 31.
    Reiner WG, Kropp BP. A 7-year experience of genetic males with severe phallic inadequacy assigned female. J Urol. 2004;172:2395–8.CrossRefPubMedGoogle Scholar
  32. 32.
    Park W, Zwink N, Rösch WH, et al. Sexual function in adult patients with classic bladder exstrophy: a multicenter study. J Pediatr Urol. 2015;11:125.e1–6.Google Scholar
  33. 33.
    Rubenwolf P, Thomas C, Thüroff JW, Stein R. Sexual function, social integration and paternity of males with classic bladder exstrophy following urinary diversion. J Urol. 2016;195:465–70.CrossRefPubMedGoogle Scholar
  34. 34.
    Castagnetti M, Tocco A, Capizzi A, Rigamonti W, Artibani W. Sexual function in men born with classic bladder exstrophy: a norm related study. J Urol. 2010;183:1118–22.CrossRefPubMedGoogle Scholar
  35. 35.
    Baumgartner TS, Lue KM, Sirisreetreerux P, et al. Long-term sexual health outcomes in men with classic bladder exstrophy. BJU Int. 2017; doi: 10.1111/bju.13866. [Epub ahead of print]
  36. 36.
    Warne GL, Bhatia V. Cultural differences and controversies about timing of management. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development. Heidelberg: Springer; 2012. p. 215–30.CrossRefGoogle Scholar
  37. 37.
    Wiygul J, Palmer LS. Micropenis. ScientificWorldJournal. 2011;11:1462–9.CrossRefPubMedGoogle Scholar
  38. 38.
    Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav. 2005;34:411–21.CrossRefPubMedGoogle Scholar
  39. 39.
    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;134:579–83.CrossRefPubMedGoogle Scholar
  40. 40.
    Callens N, De Cuypere G, Van Hoecke E, et al. Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review. J Sex Med. 2013;10:2890–903.CrossRefPubMedGoogle Scholar
  41. 41.
    Cohen-Kettenis PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav. 2005;34:399–410.CrossRefPubMedGoogle Scholar
  42. 42.
    Imperato-McGinley J, Gautier T, Peterson RE, Shackleton C. The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. J Urol. 1986;136:867–73.CrossRefPubMedGoogle Scholar
  43. 43.
    Shabir I, Khurana ML, Joseph AA, Eunice M, Mehta M, Ammini AC. Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency. Andrology. 2015;3:1132–9.CrossRefPubMedGoogle Scholar
  44. 44.
    Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z. The effect of 5α-reductase-2 deficiency on human fertility. Fertil Steril. 2014;101:310–6.CrossRefPubMedPubMedCentralGoogle Scholar
  45. 45.
    Khorashad BS, Aghili Z, Kreukels BP, et al. Psychosexual outcome among Iranian individuals with 5α-reductase deficiency type 2 and its relationship with parental sexism. J Sex Med. 2016;13:1629–41.CrossRefPubMedGoogle Scholar
  46. 46.
    Tadokoro-Cuccaro R, Hughes IA. Androgen insensitivity syndrome. Curr Opin Endocrinol Diabetes Obes. 2014;21:499–503.CrossRefPubMedGoogle Scholar
  47. 47.
    Hamann S, Stevens J, Vick JH, et al. Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. Horm Behav. 2014;66:724–30.CrossRefPubMedGoogle Scholar
  48. 48.
    Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, et al. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab. 2000;85:2664–9.PubMedGoogle Scholar
  49. 49.
    Hines M, Ahmed SF, Hughes IA. Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav. 2003;32:93–101.CrossRefPubMedGoogle Scholar
  50. 50.
    Wilson JM, Arnhym A, Champeau A, Ebbers M, Coakley F, Baskin L. Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. J Pediatr Urol. 2011;7:416–21.CrossRefPubMedGoogle Scholar
  51. 51.
    Minto CL, Liao KL, Conway GS, Creighton SM. Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril. 2003;80:157–64.CrossRefPubMedGoogle Scholar
  52. 52.
    Fliegner M, Krupp K, Brunner F, et al. Sexual life and sexual wellness in individuals with complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). J Sex Med. 2014;11:729–42.CrossRefPubMedGoogle Scholar
  53. 53.
    Bouvattier C, Mignot B, Lefèvre H, Morel Y, Bougnères P. Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab. 2006;91:3310–5.CrossRefPubMedGoogle Scholar
  54. 54.
    Lucas-Herald A, Bertelloni S, Juul A, et al. The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene. J Clin Endocrinol Metab. 2016;101:3959–67.CrossRefPubMedPubMedCentralGoogle Scholar
  55. 55.
    McCarty BM, Migeon CJ, Meyer-Bahlburg HF, Zacur H, Wisniewski AB. Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metab. 2006;19:873–7.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  1. 1.Department of Pediatric Surgery, Sri Ramasamy Memorial (SRM) Medical CollegeSRM UniversityChennaiIndia

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