Background: Societal changes are increasingly moving the conceptualization of gender from a set of binary categories towards a bimodal continuum, which along with the cautious conclusions resulting from the 2005 Consensus Conference influences gender-related clinical work with patients with disorders of sex development. Objective: This article provides an update of these developments over the past decade along with an overview of pertinent new data. Conclusion: Considerably more research is needed on larger sample sizes with systematic long-term follow-up to ground the emerging trends in clinical management of the highly diverse disorders of sex development syndromes in a solid empirical basis.

Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118:e488-e500.
AGREE Collaboration: Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: the AGREE project. Qual Saf Health Care 2003;12:18-23.
D'Alberton F, Assante MT, Foresti M, Balsamo A, Bertelloni S, Dati E, Nardi L, Bacchi ML, Mazzanti L: Quality of life and psychological adjustment of women living with 46,XY differences of sex development. J Sex Med 2015;12:1440-1449.
Aitken M, Steensma TD, Blanchard R, van der Laan DP, Wood H, Fuentes A, Spegg C, Wasserman L, Ames M, Fitzsimmons CL, Leef JH, Lishak V, Reim E, Takagi A, Vinik J, Wreford J, Cohen-Kettenis PT, de Vries AL, Kreukels BP, Zucker KJ: Evidence for an altered sex ratio in clinic-referred adolescents with gender dysphoria. J Sex Med 2015;12:756-763.
Kuper LE, Nussbaum R, Mustanski B: Exploring the diversity of gender and sexual orientation identities in an online sample of transgender individuals. J Sex Res 2012;49:244-254.
Schweizer K, Brunner F, Schützmann K, Schönbucher V, Richter-Appelt H: Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD). J Couns Psychol 2009;56:189-201.
Warne G, Grover S, Hutson J, Sinclair A, Metcalfe S, Northam E, Freeman J; Murdoch Childrens Research Institute Sex Study Group: A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 2005;18:555-567.
Wong CM: Facebook introduces gender free-form field for users. The Huffington Post, February 27, 2015. (accessed May 25, 2015).
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Arlington, American Psychiatric Association, 2013.
Egan SK, Perry DG: Gender identity: a multidimensional analysis with implications for psychosocial adjustment. Dev Psychol 2001;37:451-463.
Liben LS, Bigler RS: The developmental course of gender differentiation: conceptualizing, measuring, and evaluating constructs and pathways. Monogr Soc Res Child Dev 2002;67(2):i-viii, 1-147; discussion 148-183.
Byrne J: License to Be Yourself: Laws and Advocacy for Legal Gender Recognition of Trans People. New York, Open Society Institute, 2014.
Kalra G, Gupta S, Bhugra D: Sexual variation in India: a view from the west. Indian J Psychiatry 2010;52(suppl 1):S264-S268.
Khaleeli H: Hijra: India's third gender claims its place in law. The Guardian, April 16, 2014. (accessed May 20, 2015).
Mae L: Hijras recognized as third gender in Bangladesh. 429 Magazine, November 13, 2013. (accessed May 25, 2015).
Collins S: X marks the spot on passport for transgender travellers. The New Zealand Herald, December 5, 2012. (accessed May 25, 2015).
New Australian passports allow third gender option. BBC, September 15, 2011. (accessed May 25, 2015).
7 FAM 1300 Appendix M Gender Change. (accessed August 20, 2015).
Sex discrimination amendment (sexual orientation, gender identity and intersex status) commencement proclamation 2013. (accessed August 20, 2015).
Stafford N: Germany is first European country to recognise third sex on birth certificates. BMJ 2013;347:f5249.
Hatzenbuehler ML, Bellatorre A, Lee Y, Finch BK, Muennig P, Fiscella K: Structural stigma and all-cause mortality in sexual minority populations. Soc Sci Med 2014;103:33-41.
Perez-Brumer A, Hatzenbuehler ML, Oldenburg CE, Bockting W: Individual- and structural-level risk factors for suicide attempts among transgender adults. Behav Med 2015;41:164-171.
Hatzenbuehler ML, Schwab-Reese L, Ranapurwala SI, Hertz MF, Ranirez MR: Associations between antibullying policies and bullying in 25 States. JAMA Pediatr 2015;169: e152411.
Meyer-Bahlburg HFL: Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development. Child Adolesc Psychiatr Clin N Am 2011;20:639-649.
The Joint Commission: Advancing effective communication, cultural competence, and patient- and family-centered care for the lesbian, gay, bisexual, and transgender (LGBT) community. A field guide. 2011.
Adelson SL; American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI): Practice parameter on gay, lesbian, or bisexual sexual orientation, gender nonconformity, and gender discordance in children and adolescents. J Am Acad Child Adolesc Psychiatry 2012;51:957-974.
American Psychological Association: Guidelines for psychological practice with transgender and gender nonconforming people. (accessed October 18, 2015).
Cohen-Kettenis PT: Psychosocial and psychosexual aspects of disorders of sex development. Best Pract Res Clin Endocrinol Metab 2010;24:325-334.
Martin CL, Ruble DN: Patterns of gender development. Annu Rev Psychol 2010;61:353-381.
Zosuls KM, Ruble DN, Tamis-LeMonda CS: Self-socialization of gender in African American, Dominican immigrant, and Mexican immigrant toddlers. Child Dev 2014;85:2202-2217.
Blakemore JEO, Berenbaum SA, Liben LS: Gender Development. New York, Psychology Press/Taylor & Francis, 2009.
Bussy K: Gender identity development; in Schwartz SJ, Luyckx K, Vignoles VL (eds): Handbook of Identity Theory and Research. Volume 2: Domains and Categories. New York/Heidelberg/Dordrecht/London, Springer, 2012, pp 603-628.
Drummond KD, Bradley SJ, Peterson-Badali M, Zucker KJ: A follow-up study of girls with gender identity disorder. Dev Psychol 2008;44:34-45.
Green R: The ‘Sissy Boy Syndrome' and the Development of Homosexuality. New Haven, Yale University Press, 1987.
Steensma TD, McGuire JK, Kreukels BPC, Beekman AJ, Cohen-Kettenis PT: Factors associated with desistence and persistence of childhood gender dysphoria: a quantitative follow-up study. J Am Acad Child Adolesc Psychiatry 2013;52:582-590.
Cohen-Kettenis PT, Steensma TD, de Vries ALC: Treatment of adolescents with gender dysphoria in the Netherlands. Child Adolesc Psychiatr Clin N Am 2011;20:689-700.
Meyer-Bahlburg HFL: Sex steroids and variants of gender identity. Endocrinol Metab Clin North Am 2013;42:435-452.
Dessens AB, Slijper FME, Drop SLS: Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005;34:389-397.
Meyer-Bahlburg HFL, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW: Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav 1996;30:319-332.
Meyer-Bahlburg HFL, Migeon CJ, Berkovitz GD, Gearhart JP, Dolezal C, Wisniewski AB: Attitudes of adult 46,XY intersex persons to clinical management policies. J Urol 2004;171:1615-1619.
Yunger JL, Carver PR, Perry DG: Does gender identity influence children's psychological well-being? Dev Psychol 2004;40:572-582.
Hines M: Gender development and the human brain. Annu Rev Neurosci 2011;34:69-88.
Berenbaum SA, Beltz AM: Sexual differentiation of human behavior: effects of prenatal and pubertal organizational hormones. Front Neuroendocrinol 2011;32:183-200.
Hines M, Constantinescu M, Spencer D: Early androgen exposure and human gender development. Biol Sex Differ 2015;6:3.
McCarty BM, Migeon CJ, Meyer-Bahlburg HFL, Zacur H, Wisniewski AB: Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metab 2006;19:873-877.
Cadet P: Androgen insensitivity syndrome with male sex-of-living. Arch Sex Behav 2011;40:1101-1102.
Meyer-Bahlburg HFL, Dolezal C, Baker SW, Ehrhardt AA, New MI: Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 2006;35:667-684.
Meyer-Bahlburg HFL, Dolezal C, Baker SW, New MI: Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008;37:85-99.
Meyer-Bahlburg HFL: Psychoendocrinology of congenital adrenal hyperplasia; in New MI, Lekarev O, Parsa A, Yuen TT, O'Malley B, Hammer GD (eds): Genetic Steroid Disorders. London/Waltham/San Diego, Academic Press/Elsevier, 2014, pp 285-300.
Pasterski VL, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini CL, Spencer D, Neufeld S, Hines M: Increased cross-gender identification independent of gender role behavior in girls with congenital adrenal hyperplasia: results from a standardized assessment of 4- to 11-year-old children. Arch Sex Behav 2015;44:1363-1375.
Berenbaum SA, Bailey JM: Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003;88:1102-1106.
Meyer-Bahlburg HFL, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI: Prenatal androgenization affects gender-related behavior but not gender identity in 5- to 12-year-old girls with congenital adrenal hyperplasia. Arch Sex Behav 2004;33:97-104.
Chowdhury TK, Chowdhury MZ, Mili F, Hutson JM, Banu T: Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood. Pediatr Surg Int 2014;30:527-532.
Pasterski V, Acerini CL, Dunger DB, Ong KK, Hughes IA, Thankamony A, Hines M: Postnatal penile growth concurrent with mini-puberty predicts later sex-typed play behavior: evidence for neurobehavioral effects of the postnatal androgen surge in typically developing boys. Horm Behav 2015;69:98-105.
Okeigwe I, Kuohung W: 5-Alpha reductase deficiency: a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obes 2014;21:483-487.
Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM: Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? Int J Pediatr Endocrinol 2013;2013:15.
Berenbaum SA, Korman Bryk KL, Beltz AM: Early androgen effects on spatial and mechanical abilities: evidence from congenital adrenal hyperplasia. Behav Neurosci 2012;126:86-96.
Wong WI, Pasterski VL, Hindmarsh PC, Geffner ME, Hines M: Are there parental socialization effects on the sex-typed behavior of individuals with congenital adrenal hyperplasia? Arch Sex Behav 2013;42:381-391.
Warne GL, Raza J: Disorders of sex development (DSDs), their presentation and management in different cultures. Rev Endocr Metab Disord 2008;9:227-236.
Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB: Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol 2011;186:1642-1648.
Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus PM, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenström A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N: Changes over time in sex assignment for disorders of sex development. Pediatrics 2014;134:e710-e715.
Josso N, Audi L, Shaw G: Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex Dev 2011;5:225-234.
Lee PA, Houk CP, Husmann DA: Should male gender assignment be considered in the markedly virilized patient with 46,XX and congenital adrenal hyperplasia? J Urol 2010;184:1786-1792.
Schweizer K, Brunner F, Handford C, Richter-Appelt H: Gender experience and satisfaction with gender allocation in adults with diverse intersex conditions (divergences of sex development, DSD). Psychol Sex 2014;5:56-82.
Barseghyan H, Vilain E: The genetics of ovotesticular disorders of sex development; in New MI, Lekarev O, Parsa A, Yuen TT, O'Malley B, Hammer GD (eds): Genetic Steroid Disorders. London/Waltham/San Diego, Academic Press/Elsevier, 2014, pp 261-263.
Damiani D, Guedes DR, Damiani D, Setian N, Maciel-Guerra AT, Mello MP, Guerra-Júnior G: True hermaphroditism: experience with 36 patients (in Portuguese). Arq Bras Endocrinol Metabol 2005;49:71-78.
Nihoul-Fékété C: How to deal with congenital disorders of sex development in 2008 (DSD). Eur J Pediatr Surg 2008;18:364-367.
Jaruratanasirikul S, Engchaun V: Management of children with disorders of sex development: 20-year experience in southern Thailand. World J Pediatr 2014;10:168-174.
Sircili MHP, Denes FT, Costa EMF, Machado MG, Inacio M, Silva RB, Srougi M, Mendonca BB, Domenice S: Long-term follow-up of a large cohort of patients with ovotesticular disorder of sex development. J Urol 2014;191:1532-1536.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.