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Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation

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Abstract

This review addresses the long-term gender outcome of gender assignment of persons with intersexuality and related conditions. The gender assignment to female of 46,XY newborns with severe genital abnormalities despite a presumably normal-male prenatal sex-hormone milieu is highly controversial because of variations in assumptions about the role of biological factors in gender identity formation. This article presents a literature review of gender outcome in three pertinent conditions (penile agenesis, cloacal exstrophy of the bladder, and penile ablation) in infancy or early childhood. The findings clearly indicate an increased risk of later patient-initiated gender re-assignment to male after female assignment in infancy or early childhood, but are nevertheless incompatible with the notion of a full determination of core gender identity by prenatal androgens.

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References

  • Attie, J. (1961). Congenital absence of the penis: A report of a case with congenital concealed penile agenesis and congenital absence of the left kidney and ureter. Journal of Urology, 86, 343–345.

    PubMed  Google Scholar 

  • Avolio, L., Koo, H. P., Bescript, A. C., Snyder, H. M., Canning, D. A., & Duckett, J. W. (1996). The long-term outcome in men with exstrophy/epispadias: Sexual function and social integration. Journal of Urology, 156, 822–825.

    Article  PubMed  Google Scholar 

  • Baker Towell, D. M., & Towell, A. D. (2003). A preliminary investigation into quality of life, psychological distress and social competence in children with cloacal exstrophy. Journal of Urology, 169, 1850–1853.

    Article  PubMed  Google Scholar 

  • Bakker, A., van Kesteren, P., Gooren, L. J. G., & Bezemer, P. D. (1993). The prevalence of transsexualism in the Netherlands. Acta Psychiatrica Scandinavica, 87, 237–238.

    PubMed  Google Scholar 

  • Baskin, L. S., Erol, A., Li, Y. W., Liu, W. H., Kurzrock, E., & Cunha, G. R. (1999). Anatomical studies of the human clitoris. Journal of Urology, 162, 1015–1020.

    Article  PubMed  Google Scholar 

  • Baskin, L. S., Lee, Y. T., & Cunha, G. R. (1997). Neuroanatomical ontogeny of the human fetal penis. British Journal of Urology, 79, 628–640.

    PubMed  Google Scholar 

  • Ben-Chaim, J., Jeffs, R. D., Reiner, W. G., & Gearhart, J. P. (1996). The outcome of patients with classic bladder exstrophy in adult life. Journal of Urology, 155, 1251–1252.

    Article  PubMed  Google Scholar 

  • Bernardinelli, W., Mattoso, J., Albuquerque, D., & Cordeiro, J.-G. (1953). Aplasie du pénis. La Presse Médicale, 61, 432.

    PubMed  Google Scholar 

  • Bradley, S. J., Oliver, G. D., Chernick, A. B., & Zucker, K. J. (1998). Experiment of nurture: Ablatio penis at 2 months, sex reassignment at 7 months, and a psychosexual follow-up in young adulthood. Pediatrics, 102, E91-E95. (Available on the World Wide Web http://www.pediatrics.org/cgi/content/full/102/1/e9)

  • Cendron, M. (2001). Disorders of the penis and scrotum. In J. P. Gearhart, R. C. Rink, & P. D. E. Mouriquand (Eds.), Pediatric urology (pp. 729–737). Philadelphia, PA: W. B. Saunders.

    Google Scholar 

  • Choudhury, S. R., & Maji, B. P. (1993). Penile agenesis: An unusual variant. International Urology and Nephrology, 25, 71–76.

    PubMed  Google Scholar 

  • Ciftci, A. O., Şenocak, M. E., & Büyükpamukçu, N. (1995). Male gender assignment in penile agenesis: A case report and review of the literature. Journal of Pediatric Surgery, 30, 1358–1360.

    Article  PubMed  Google Scholar 

  • Cogan, S. F., Becker, R. D., & Hofmann, A. D. (1975). Adolescent males with urogenital anomalies: Their body image and psychosexual development. Journal of Youth and Adolescence, 4, 359–373.

    Article  Google Scholar 

  • Colapinto, J. (2000). As nature made him: The boy who was raised as a girl. New York: HarperCollins.

    Google Scholar 

  • Diamond, M. (1982). Sexual identity, monozygotic twins reared in discordant sex roles and a BBC follow-up. Archives of Sexual Behavior, 11, 181–186.

    Article  PubMed  Google Scholar 

  • Diamond, M. (1997). Sexual identity and sexual orientation in children with traumatized or ambiguous genitalia. Journal of Sex Research, 34, 199–211.

    Google Scholar 

  • Diamond, M. (1999). Pediatric management of ambiguous and traumatized genitalia. Journal of Urology, 162, 1021–1028.

    Article  PubMed  Google Scholar 

  • Diamond, M., & Sigmundson, H. K. (1997). Sex reassignment at birth: Long-term review and clinical implications. Archives of Pediatrics and Adolescent Medicine, 151, 298–304.

    PubMed  Google Scholar 

  • Diseth, T. H., Bjordal, R., Schultz, A., Stange, M., & Emblem, R. (1998). Somatic function, mental health and psychosocial functioning in 22 adolescents with bladder exstrophy and epispadias. Journal of Urology, 159, 1684–1690.

    Article  PubMed  Google Scholar 

  • Dittmann, R. W. (1998). Ambiguous genitalia, gender-identity problems, and sex reassignment. Journal of Sex and Marital Therapy, 24, 255–271.

    PubMed  Google Scholar 

  • Drury, R. B., & Schwarzell, H. H. (1935). Congenital absence of penis. Archives of Surgery, 30, 236–242.

    Google Scholar 

  • Duckro, P. N., Purcell, M., Gregory, J., & Schultz, K. (1985). Biofeedback for the treatment of anal incontinence in a child with ureterosigmoidostomy. Biofeedback and Self-Regulation, 10, 325–333.

    Article  PubMed  Google Scholar 

  • Egan, S. K., & Perry, D. G. (2001). Gender identity: A multidimensional analysis with implications for psychosocial adjustment. Developmental Psychology, 37, 451–463.

    Article  PubMed  Google Scholar 

  • Eisler, J. A., Tannenbaum, P. L., Mann, D. R., & Wallen, K. (1993). Neonatal testicular suppression with a GnRH agonist in rhesus monkeys: Effects on adult endocrine function and behavior. Hormones and Behavior, 27, 551–567.

    Article  PubMed  Google Scholar 

  • El Khader, K., El Fassi, J., Koutani, A., Attya, A. I., Hachimi, M., & Lakrissa, A. (2003). Aspects psychologiques, sexuels et sociaux de l’exstrophie vésicale chez l’adulte. Analyse de 3 cas. Annales d’Urologie, 37, 113–116.

    Article  PubMed  Google Scholar 

  • Evans, J. A., Erdile, L. B., Greenberg, C. R., & Chudley, A. E. (1999). Agenesis of the penis: Patterns of associated malformations. American Journal of Medical Genetics, 84, 47–55.

    Article  PubMed  Google Scholar 

  • Feitz, W. F. J., van Grunsven, E. J. K. J. E. M., Froeling, F. M. J. A., & de Vries, J. D. M. (1994). Outcome analysis of the psychosexual and socioeconomical development of adult patients born with bladder exstrophy. Journal of Urology, 152, 1417–1419.

    PubMed  Google Scholar 

  • Filler, R. M. (1988). [Discussion]. Annals of Surgery, 208, 311–312.

    Google Scholar 

  • Fineman, A. D. (1959). Preliminary observations on ego development in children with congenital defects of the genitourinary system. American Journal of Orthopsychiatry, 29, 110–120.

    PubMed  Google Scholar 

  • Fineman, A. D. (1963). Ego development in boys with a congenital defect of the genitourinary system. Journal of the American Academy of Child Psychiatry, 2, 636–652.

    Google Scholar 

  • Fleiss, J. L., Levin, B., & Paik, M. C. (2003). Statistical methods for rates and proportions (3rd ed.). Hoboken, NJ: Wiley.

    Google Scholar 

  • Gautier, T., Salient, J., Pena, S., Imperato-McGinley, J., & Peterson, R. E. (1981). Testicular function in 2 cases of penile agenesis. Journal of Urology, 126, 556–557.

    PubMed  Google Scholar 

  • Gearhart, J. P. (2001). The bladder exstrophy-epispadias-cloacal exstrophy complex. In J. P. Gearhart, R. C. Rink, & P. D. E. Mouriquand (Eds.), Pediatric urology (pp. 511–546). Philadelphia, PA: W. B. Saunders.

    Google Scholar 

  • Gearhart, J. P., & Rock, J. A. (1989). Total ablation of the penis after circumcision with electrocautery: A method of management and long-term followup. Journal of Urology, 142, 799–801.

    PubMed  Google Scholar 

  • Giedd, J. N. (2004). Structural magnetic resonance imaging of the adolescent brain. Annals of the New York Academy of Sciences, 1021, 77–85.

    Article  PubMed  Google Scholar 

  • Gillies, H., & Harrison, R. J. (1948). Congenital absence of the penis. British Journal of Plastic Surgery, 1, 8–28.

    Google Scholar 

  • Hayden, P. W., Chapman, W. H., & Stevenson, J. K. (1973). Exstrophy of the cloaca. American Journal of Diseases of Children, 125, 879–883.

    PubMed  Google Scholar 

  • Hendren, W. H. (1997). The genetic male with absent penis and urethrorectal communication: Experience with 5 patients. Journal of Urology, 157, 1469–1474.

    Article  PubMed  Google Scholar 

  • Hines, M. (2002). Sexual differentiation of human brain and behavior. In D. W. Pfaff, A. P. Arnold, A. M. Etgen, S. E. Fahrbach, & R. T. Rubin (Eds.), Hormones, brain, and behavior (Vol. 4, pp. 452–462). Amsterdam: Academic Press (Elsevier Science).

    Google Scholar 

  • Howell, C., Caldamone, A., Snyder, H., Ziegler, M., & Duckett, J. (1983). Optimal management of cloacal exstrophy. Journal of Pediatric Surgery, 18, 365–369.

    PubMed  Google Scholar 

  • Husmann, D. A., McLorie, G. A., & Churchill, B. M. (1989). Phallic reconstruction in cloacal exstrophy. Journal of Urology, 142, 563–564.

    PubMed  Google Scholar 

  • Johnston, W. G., Yeatman, G. W., & Weigel, J. W. (1977). Congenital absence of the penis. Journal of Urology, 117, 508–512.

    PubMed  Google Scholar 

  • Kessler, W. O., & McLaughlin, A. P. (1973) Agenesis of penis. Embryology and management. Urology, 1, 226–229.

    Article  PubMed  Google Scholar 

  • Lattimer, J. K., Beck, L., Yeaw, S., Puchner, P. J., MacFarlane, M. T., & Krisiloff, M. (1978). Long-term followup after exstrophy closure: Late improvement and good quality of life. Journal of Urology, 119, 664–666.

    PubMed  Google Scholar 

  • Lisa, L., Hanak, J., Cerny, M., Faflova, H., Kafka, V., & Braza, J. (1973). Agenesis of the penis. Journal of Pediatric Surgery, 8, 327–328.

    PubMed  Google Scholar 

  • Lund, D. P., & Hendren, W. H. (1993). Cloacal exstrophy: Experience with 20 cases. Journal of Pediatric Surgery, 28, 1360–1369.

    PubMed  Google Scholar 

  • Mann, D. R., Akinbami, M. A., Gould, K. G., Paul, K., & Wallen, K. (1998). Sexual maturation in male rhesus monkeys: Importance of neonatal testosterone exposure and social ranks. Journal of Endocrinology, 156, 493–501.

    Article  PubMed  Google Scholar 

  • Mann, D. R., Akinbami, M. A., Gould, K. G., Tanner, J. M., & Wallen, K. (1993). Neonatal treatment of male monkeys with a gonadotropin-releasing hormone agonist alters differentiation of central nervous system centers that regulate sexual and skeletal development. Journal of Clinical Endocrinology and Metabolism, 76, 1319–1324.

    Article  PubMed  Google Scholar 

  • Martin, C. L., Ruble, D. N., & Szkrybalo, J. (2002). Cognitive theories of early gender development. Psychological Bulletin, 128, 903–933.

    Article  PubMed  Google Scholar 

  • Mathews, R. I., Perlman, E., Marsh, D. W., & Gearhart, J. P. (1999). Gonadal morphology in cloacal exstrophy: Implications in gender assignment. British Journal of Urology International, 84, 99–100.

    Google Scholar 

  • McCrea, L. E. (1942). Congenital absence of the penis. Journal of Urology, 47, 818–823.

    Google Scholar 

  • Mesrobian, H.-G. J., Kelalis, P. P., & Kramer, S. A. (1986). Long-term followup of cosmetic appearance and genital function in boys with exstrophy: Review of 53 patients. Journal of Urology, 136, 256–258.

    PubMed  Google Scholar 

  • Meyer-Bahlburg, H. F. L. (1990). Short stature: Psychological issues. In F. Lifshitz (Ed.), Pediatric endocrinology (2nd ed., pp. 173–196) New York: Marcel Dekker.

    Google Scholar 

  • Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., Carlson, A. D., Obeid, J. S., & New, M. I. (2004). Prenatal androgenization affects gender-related behavior but not gender identity in 5–12 year old girls with congenital adrenal hyperplasia. Archives of Sexual Behavior, 33, 97–104.

    Article  PubMed  Google Scholar 

  • Meyer-Bahlburg, H. F. L., Ehrhardt, A. A., Pinel, A., & Gruen, R. (1989, October). Gender identity development in two 46,XY individuals with normal gonads raised female because of severe genital abnormalities. Paper presented at the meeting of the Society for Sex Therapy and Research, Cleveland, OH.

  • Money, J. (1968). Sex errors of the body: Dilemmas, education, counseling. Baltimore, MD: Johns Hopkins Press.

    Google Scholar 

  • Money, J. (1975). Ablatio penis: Normal male infant sex-reassigned as a girl. Archives of Sexual Behavior, 4, 65–71.

    Article  PubMed  Google Scholar 

  • Money, J. (1998a). Medicine and law: Case consultation, ablatio penis. In J. Money (Ed.), Sin, science, and the sex police: Essays on sexology and sexosophy (pp. 286–296). Amherst, NY: Prometheus Books.

    Google Scholar 

  • Money, J. (1998b). Ablatio penis: Nature/nurture redux. In J. Money (Ed.), Sin, science, and the sex police: Essays on sexology and sexosophy (pp. 297–326). Amherst, NY: Prometheus Books.

    Google Scholar 

  • Money, J., & Ehrhardt, A. A. (1972). Man and woman, boy and girl: The differentiation and dimorphism of gender identity from conception to maturity. Baltimore, MD: Johns Hopkins Press.

    Google Scholar 

  • Mutaf, M. (2001) Nonmicrosurgical use of the radial forearm flap for penile reconstruction. Plastic and Reconstructive Surgery, 107, 80–86.

    Article  PubMed  Google Scholar 

  • New York Times. (2004, May 12). David Reimer, 38, subject of the John/Joan case. p. A21.

  • Ochoa, B. (1998). Trauma of the external genitalia in children: Amputation of the penis and emasculation. Journal of Urology, 160, 1116–1119.

    Article  PubMed  Google Scholar 

  • Oesch, I. L., Pinter, A., & Ransley, P. G. (1987). Penile agenesis: A report of six cases. Journal of Pediatric Surgery, 22, 172–174.

    PubMed  Google Scholar 

  • O’Neill, J. A., Holcomb, G. W., Schnaufer, L., Templeton, J. M., Jr., Bishop, H. C., Ross, A. J., et al. (1988). Surgical experience with thirteen conjoined twins. Annals of Surgery, 208, 299–312.

    PubMed  Google Scholar 

  • Pohlandt, F., Kühn, H., Teller, W., & Thomä, H. (1974). Penisagnesie. Weibliche Geschlechtszuweisung unter psychotherapeutischer Betreuung der Eltern. Deutsche Medizinische Wochenschrift, 99, 2166–2172.

    PubMed  Google Scholar 

  • Reiner, W. G., & Gearhart, J. P. (2004). Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. New England Journal of Medicine, 350, 333–341.

    Article  PubMed  Google Scholar 

  • Reiner, W. G., Gearhart, J. P., & Jeffs, R. (1999). Psychosexual dysfunction in males with genital anomalies: Late adolescence, Tanner stages IV to VI. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 865–872.

    Article  PubMed  Google Scholar 

  • Reiner, W. G., & Kropp, B. P. (2004). A 7-year experience of genetic males with severe phallic inadequacy assigned female. Journal of Urology, 172, 2395–2398.

    Google Scholar 

  • Rickham, P. P. (1960). Vesico-intestinal fissure. Archives of Disease in Childhood, 35, 97–102.

    Google Scholar 

  • Rosenblum, R. R., & Turner, W. R. (1973). Congenital absence of the penis. Journal of the South Carolina Medical Association, 69, 178–179.

    Google Scholar 

  • Rösler, A., & Kohn, G. (1983). Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role. Journal of Steroid Biochemistry, 19, 663–674.

    Article  PubMed  Google Scholar 

  • Ruble, D. N., & Martin, C. L. (1998). Gender development. In W. Damon (Series Ed.) & N. Eisenberg (Vol. Ed.), Handbook of child psychology: Vol. 3. Social, emotional, and personality development (5th ed., pp. 933–1016). New York: Wiley.

  • Schlegel, P. N., & Gearhart, J. P. (1989). Neuroanatomy of the pelvis in an infant with cloacal exstrophy: A detailed microdissection with histology. Journal of Urology, 141, 583–585.

    PubMed  Google Scholar 

  • Schober, J. M., Carmichael, P. A., Hines, M., & Ransley, P. G. (2002). The ultimate challenge of cloacal exstrophy. Journal of Urology, 167, 300–304.

    Article  PubMed  Google Scholar 

  • Sisk, C. L., Schulz, K. M., & Zehr, J. L. (2003). Puberty: A finishing school for male social behavior. Annals of the New York Academy of Sciences, 1007, 189–198.

    Article  PubMed  Google Scholar 

  • Skoog, S. J., & Belman, A. B. (1989). Aphallia: Its classification and management. Journal of Urology, 141, 589–592.

    PubMed  Google Scholar 

  • Slijper, F. M. E., Drop, S. L. S., Molenaar, J. C., & de Muinck Keizer-Schrama, S. M. P. F. (1998). Long-term psychological evaluation of intersex children. Archives of Sexual Behavior, 27, 125–144.

    Article  PubMed  Google Scholar 

  • Stein, R., Stöckle, M., Fisch, M., Nakai, H., Müller, S. C., & Hohenfellner, R. (1994). The fate of the adult exstrophy patient. Journal of Urology, 152, 1413–1416.

    PubMed  Google Scholar 

  • Stjernqvist, K., & Kockum, C. C. (1999). Bladder exstrophy: Psychological impact during childhood. Journal of Urology, 162, 2125–2129.

    PubMed  Google Scholar 

  • Stolar, C. J. H., Wiener, E. S., Hensle, T. W., Silen, M. L., Sukarochana, K., Sieber, W. K., et al. (1987). Reconstruction of penile agenesis by a posterior sagittal approach. Journal of Pediatric Surgery, 22, 1076–1080.

    PubMed  Google Scholar 

  • Stoller, R. J. (1965). The sense of maleness. Psychoanalytic Quarterly, 34, 207–218.

    PubMed  Google Scholar 

  • Tank, E. S., & Lindenauer, S. M. (1970). Principles of management of exstrophy of the cloaca. American Journal of Surgery, 119, 95–98.

    Article  PubMed  Google Scholar 

  • Thompson, R. A., & Nelson, C. A. (2001). Developmental science and the media: Early brain development. American Psychologist, 56, 5–15.

    PubMed  Google Scholar 

  • Tillem, S. M., Stock, J. A., & Hanna, M. K. (1998). Vaginal construction in children. Journal of Urology, 160, 186–190.

    Article  PubMed  Google Scholar 

  • Woodhouse, C. R. J., Ransley, P. G., & Williams, D. I. (1983). The patient with exstrophy in adult life. British Journal of Urology, 55, 632–635.

    PubMed  Google Scholar 

  • Young, H. H., Cockett, A. T. K., Stoller, R., Ashley, F. L., & Goodwin, W. E. (1971). The management of agenesis of the phallus. Pediatrics, 47, 81–87.

    PubMed  Google Scholar 

  • Yucel, S., & Baskin, L. S. (2003). Neuroanatomy of the male urethra and perineum. British Journal of Urology International, 92, 624–630.

    Google Scholar 

  • Yucel, S., de Souza, A., & Baskin, L. S. (2004). Neuroanatomy of the human female lower urogenital tract. Journal of Urology, 172, 191–195.

    Article  PubMed  Google Scholar 

  • Yunger, J. L., Carver, P. R., & Perry, D. G. (2004). Does gender identity influence children’s psychological well-being? Developmental Psychology, 40, 572–582.

    Article  PubMed  Google Scholar 

  • Zabbo, A., & Kay, R. (1986). Ureterosigmoidostomy and bladder exstrophy: A long-term followup. Journal of Urology, 136, 396–398.

    PubMed  Google Scholar 

  • Zderic, S. A., Canning, D. A., Carr, M. C., Kodman-Jones, C., & Snyder, H. McC. (2002). The CHOP experience with cloacal exstrophy and gender reassignment. In S. A. Zderic, D. A. Canning, M. C. Carr, & H. McC. Snyder (Eds.), Pediatric gender assignment: A critical reappraisal (pp. 135–147). New York: Kluwer Academic/Plenum Publishers.

    Google Scholar 

  • Zucker, K. J. (1999). Intersexuality and gender identity differentiation. Annual Review of Sex Research, 10, 1–69.

    PubMed  Google Scholar 

  • Zucker, K. J. (2002). Evaluation of sex- and gender-assignment decisions in patients with physical intersex conditions: A methodological and statistical note. Journal of Sex and Marital Therapy, 28, 269–274.

    Article  PubMed  Google Scholar 

  • Zucker, K. J. (2005). Measurement of psychosexual differentiation. Archives of Sexual Behavior, 34, 375–388.

    Google Scholar 

  • Zwiren, G. T., & Patterson, J. H. (1965). Extrophy of the cloaca. Report of a case treated surgically. Pediatrics, 35, 687–692.

    PubMed  Google Scholar 

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Correspondence to Heino F. L. Meyer-Bahlburg Dr. rer. nat..

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Meyer-Bahlburg, H.F.L. Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation. Arch Sex Behav 34, 423–438 (2005). https://doi.org/10.1007/s10508-005-4342-9

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