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Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

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Abstract

Introduction

Disorders of Sex Development (DSD) are a wide range of congenital conditions characterized by an incongruence of components involved in sexual differentiation, including gender psychosexual development. The management of such disorders is complex, and one of the most crucial decision is represented by gender assignment. In fact, the primary goal in DSD is to have a gender assignment consistent with the underlying gender identity in order to prevent the distress related to a forthcoming Gender Dysphoria. Historically, gender assignment was based essentially on surgical outcomes, assuming the neutrality of gender identity at birth. This policy has been challenged in the past decade refocusing on the importance of prenatal and postnatal hormonal and genetic influences on psychosexual development.

Aims

(1) to update the main psychological and medical issues that surround DSD, in particular regarding gender identity and gender assignment; (2) to report specific clinical recommendations according to the different diagnosis.

Methods

A systematic search of published evidence was performed using Medline (from 1972 to March 2016). Review of the relevant literature and recommendations was based on authors’ expertise.

Results

A review of gender identity and assignment in DSD is provided as well as clinical recommendations for the management of individuals with DSD.

Conclusions

Given the complexity of this management, DSD individuals and their families need to be supported by a specialized multidisciplinary team, which has been universally recognized as the best practice for intersexual conditions. In case of juvenile GD in DSD, the prescription of gonadotropin-releasing hormone analogues, following the World Professional Association for Transgender Health and the Endocrine Society guidelines, should be considered. It should always be taken into account that every DSD person is unique and has to be treated with individualized care. In this perspective, international registries are crucial to improve the understanding of these challenging conditions and clinical practice, in providing a better prediction of gender identity.

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References

  1. Kim SS, Kolon TF (2009) Hormonal abnormalities leading to disorders of sexual development. Expert Rev Endocrinol Metab 4:161–172

    Article  CAS  Google Scholar 

  2. Hiort O, Birinbaun W, Marshall L, Wunsch L, Werner R, Schroder T, Dohnert U, Hoterhus PM (2014) Management of disorders of sex development. Nat Rev Endocrinol 10:520–529

    Article  PubMed  Google Scholar 

  3. Jost A (1972) A new look at the mechanism controlling sex differentiation in mammals. Johns Hopkins Med J 130:38–53

    CAS  PubMed  Google Scholar 

  4. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351:117–121

    Article  CAS  PubMed  Google Scholar 

  5. Achermann JC, Hughes IA (2008) Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR (eds) Williams textbook of endocrinology, 11th edn. Elsevier Saunders, Philadelphia

    Google Scholar 

  6. Cameron F, Smith C (2004) Embryology of the female genital tract. In: Balen A, Creighton S, Davies MC, MacDougall J, Stanhope R (eds) Paediatric and adolescent gynaecology: a multidisciplinary approach. Cambridge University Press, Cambridge, pp 3–8

    Chapter  Google Scholar 

  7. Migeon CJ, Wisniewski AB (2003) Human sex differentiation and its abnormalities. Best Pract Res Clin Obstet Gynaecol 17:1–18

    Article  PubMed  Google Scholar 

  8. Siiteri PK, Wilson JD (1974) Testosterone formation and metabolism during male sexual differentiation in the human embryo. J Clin Endocrinol Metab 38:113–125

    Article  CAS  PubMed  Google Scholar 

  9. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244

    Article  CAS  PubMed  Google Scholar 

  10. Pasterski V (2008) Disorders of sex development and atypical sex differentiation. In: Rowland DL, Incrocci L (eds) Handbook of sexual and gender identity disorders. Wiley, Hoboken, pp 354–374

    Google Scholar 

  11. Money J, Hampson JG, Hampson JL (1955) An examination of some basic sexual concepts: the evidence of human hermaphroditism. Bull Johns Hopkins Hosp 97:301–319

    CAS  PubMed  Google Scholar 

  12. Gooren L (2010) The endocrinology of sexual behavior and gender identity. In: Jameson L, de Groot LJ (eds) Endocrinology—adult and pediatric, 6th edn. Elsevier Saunders, Philadelphia

    Google Scholar 

  13. Arnold AP (2009) The organizational–activational hypothesis as the foundation for a unified theory of sexual differentiation of all mammalian tissues. Horm Behav 55:570–578

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Bramen JE, Hranilovich JA, Dahl RE, Chen J, Rosso C, Forbes EE, Dinov ID, Worthman CM, Sowell ER (2012) Sex matters during adolescence: testosterone-related cortical thickness maturation differs between boys and girls. PLoS ONE 7:e33850

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Giedd JN, Blumenthal J, Jeffries NO, Castellanos FX, Liu H, Zijdenbos A, Paus T, Evans AC, Rapoport JL (1999) Brain development during childhood and adolescence: a longitudinal MRI study. Nat Neurosci 2:861–863

    Article  CAS  PubMed  Google Scholar 

  16. Lenroot RK, Gogtay N, Greenstein DK, Molloy Wells E, Wallace GL, Clasen LS, Blumenthal JD, Lerch J, Zejdenbos AP, Evans AC, Thomphons PM, Giedd JN (2007) Sexual dimorphism of brain developmental trajectories during childhood and adolescence. Neuroimage 36:1065–1073

    Article  PubMed  PubMed Central  Google Scholar 

  17. McCarthy MM, Arnold AP (2011) Reframing sexual differentiation of the brain. Nat Neurosci 14:677–683

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Phoenix CH, Goy RW, Gerall AA, Young WC (1959) Organizing action of prenatally administered testosterone propionate on the tissues mediating mating behavior in the female guinea pig. Endocrinology 65:369–382

    Article  CAS  PubMed  Google Scholar 

  19. Meyer-Bahlburg HFL, Baratz Dalke K, Berenbaum SA, Cohen-Kettenis PT, Hines M, Schober JM (2016) Gender assignment, reassignment and outcome in disorders of sex development: update of the 2005 consensus conference. Horm Res Paediatr 85:112–118

    Article  CAS  PubMed  Google Scholar 

  20. Quigley CA (2002) Editorial: the postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome. J Clin Endocrinol Metab 87:8–24

    Google Scholar 

  21. Swaab DF (2007) Sexual differentiation of the brain and behavior. Best Pract Res Clin Endocrinol Metab 21:431–444

    Article  PubMed  Google Scholar 

  22. Swaab DF (2004) The human hypothalamus. Basic and clinical aspects. Part II: neuropathology of the hypothalamus and adjacent brain structures. In: Aminoff MJ, Boller F, Swaab DF (eds) Handbook of clinical neurology. Elsevier, Amsterdam

    Google Scholar 

  23. Cohen-Brendahan CC, Van de Beek C, Berendbaum SA (2005) Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings. Neurosci Biobehav Rev 29:353–384

    Article  CAS  Google Scholar 

  24. Jürgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U, Köhler B, DSD Network Working Group (2012) Psychosexual development in adolescents and adults with disorders of sex development: results from the German Clinical Evaluation Study. J Sex Med 10:2703–2714

    Article  PubMed  Google Scholar 

  25. Meyer-Bahlburg HF (2013) Sex steroids and variants of gender identity. Endocrinol Metab Clin North Am 42:435–452

    Article  PubMed  Google Scholar 

  26. Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI (2004) Prenatal androgenization affects gender-related behavior but not gender identity in 5–12 years old girls with congenital adrenal hyperplasia. Arch Sex Behav 33:97–104

    Article  PubMed  Google Scholar 

  27. Money J (1994) The concept of gender identity disorder in childhood and adolescence after 39 years. J Sex Marital Ther 20:163–177

    Article  CAS  PubMed  Google Scholar 

  28. Zucker KJ (2002) Intersexuality and gender identity differentiation. J Pediatr Adolesc Gynecol 15:3–13

    Article  PubMed  Google Scholar 

  29. Byne W (2006) Developmental endocrine influences on gender identity: implications for management of disorders of sex development. Mt Sinai J Med 73:950–959

    PubMed  Google Scholar 

  30. Gooren L (1990) The endocrinology of transsexualism: a review and commentary. Psychoneuroendocrinology 5:3–14

    Article  Google Scholar 

  31. Gooren L (2006) The biology of human psychosexual differentiation. Horm Behav 50:589–601

    Article  CAS  PubMed  Google Scholar 

  32. Money J (1981) The development of sexuality and eroticism in humankind. Q Rev Biol 56:379–404

    Article  CAS  PubMed  Google Scholar 

  33. Meyer-Bahlburg HF (2010) From mental disorder to iatrogenic hypogonadism: dilemmas in conceptualizing gender identity variants as psychiatric conditions. Arch Sex Behav 39:461–476

    Article  PubMed  PubMed Central  Google Scholar 

  34. Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metabol 22:119–134

    Article  Google Scholar 

  35. Houk CP, Lee PA (2010) Approach to assigning gender in 46, xx congenital adrenal hyperplasia with male external genitalia: replacing dogmatism with pragmatism. J Clin Endocrinol Metab 95:4501–4508

    Article  CAS  PubMed  Google Scholar 

  36. Bao AM, Swaab DF (2011) Sexual differentiation of the human brain: relation to gender identity, sexual orientation and neuropsychiatric disorders. Front Neuroendocrinol 32:214–226

    Article  PubMed  Google Scholar 

  37. American Psychiatric Association (2013) DSM-5: diagnostic and statistical manual for mental disorders, 5th edn. American Psychiatric Press, Washington, DC

    Book  Google Scholar 

  38. Kruijver FP, Zhou JN, Pool CW, Hofman MA, Gooren LJ, Swaab DF (2000) Male-to-female transsexuals have female neuron numbers in a limbic nucleus. J Clin Endocrinol Metab 85:2034–2041

    Article  CAS  PubMed  Google Scholar 

  39. Zhou JN, Hofman MA, Gooren LJ, Swaab DF (1995) A sex difference in the human brain and its relation to transsexuality. Nature 378:68–70

    Article  CAS  PubMed  Google Scholar 

  40. Smith ES, Junger J, Derntl B, Habel U (2015) The transsexual brain—a review of findings on the neural basis of transsexualism. Neurosci Biobehav Rev 59:251–266

    Article  PubMed  Google Scholar 

  41. Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E (2009) Regional gray matter variation in male-to-female transsexualism. Neuroimage 46:904–907

    Article  PubMed  PubMed Central  Google Scholar 

  42. Garcia-Falgueras A, Swaab DF (2008) A sex difference in the hypothalamic uncinate nucleus: relationship to gender identity. Brain 131:3132–3146

    Article  PubMed  Google Scholar 

  43. Berglund H, Lindstrom P, Dhejne-Helmy C, Savic I (2008) Male to female transsexuals show sex-atypical hypothalamus activation when smelling odorous steroids. Cerebr Cortex 18:1900–1908

    Article  CAS  Google Scholar 

  44. Gizewski ER, Krause E, Schlamann M, Happich F, Ladd ME, Forsting M, Senf W (2009) Specific cerebral activation due to visual erotic stimuli in male-to-female transsexuals compared with male and female controls: an fMRI study. J Sex Med 6:440–448

    Article  PubMed  Google Scholar 

  45. Burke SM, Menks WM, Cohen-Kettenis PT, Klink DT, Bakker J (2014) Click-evoked otoacoustic emissions in children and adolescents with gender identity disorder. Arch Sex Behav 43:1515–1523

    Article  PubMed  Google Scholar 

  46. Ciocca G, Limoncin E, Cellerino A, Fisher AD, Gravina GL, Carosa E, Mollaioli D, Valenzano DR, Mennucci A, Bandini E, Di Stasi SM, Maggi M, Lenzi A, Jannini EA (2014) Gender identity rather than sexual orientation impacts on facial preferences. J Sex Med 11:2500–2507

    Article  PubMed  Google Scholar 

  47. Hare L, Bernard P, Sànchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR (2009) Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry 65:93–96

    Article  CAS  PubMed  Google Scholar 

  48. Bentz EK, Hefler LA, Kaufmann U, Huber JC, Kolbus A, Tempfer CB (2008) A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female to male but not male to female transsexualism. Fertil Steril 90:56–59

    Article  CAS  PubMed  Google Scholar 

  49. Henningsson S, Westberg L, Nilsson S, Lundström B, Ekselius L, Bodlund O, Lindström E, Hellstrand M, Rosmond R, Eriksson E, Landén M (2005) Sex steroid-related genes and male-to-female transsexualism. Psychoneuroendocrinology 30:657–664

    Article  CAS  PubMed  Google Scholar 

  50. Fisher AD (2013) Disorders of sex development. In: Kirana PS, Tripodi F, Reisman Y, Porst H (eds) The EFS and ESSM syllabus of clinical sexology. Medix publishers, Amsterdam

    Google Scholar 

  51. Fisher AD, Ristori J, Bandini E, Giordano S, Mosconi M, Jannini EA, Greggio NA, Godano A, Manieri C, Meriggiola C, Ricca V, Italian GnRH analogs study ONIG group, Dettore D, Maggi M (2014) Medical treatment in gender dysphoric adolescents endorsed by SIAMS-SIE-SIEDP-ONIG. J Endocrinol Invest 37:675–687

    Article  CAS  PubMed  Google Scholar 

  52. Fisk NM (1974) Editorial: gender dysphoria syndrome—the conceptualization that liberalizes indications for total gender reorientation and implies a broadly based multi-dimensional rehabilitative regimen. West J Med 120:386–391

    CAS  PubMed  PubMed Central  Google Scholar 

  53. Meyer-Bahlburg HF (2005) Introduction: gender dysphoria and gender change in persons with intersexuality. Arch Sex Behav 34:371–373

    Article  PubMed  Google Scholar 

  54. Mayfield W (2001) The development of an internalized homonegativity inventory for gay men. J Homosex 41:53–76

    Article  CAS  PubMed  Google Scholar 

  55. Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group; ESPE Consensus Group (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Bashamboo A, McElreavey K (2015) Human sex-determination and disorders of sex-development (DSD). Semin Cell Dev Biol 45:77–83

    Article  CAS  PubMed  Google Scholar 

  57. McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42(2):395–412 (ix–x)

    Article  PubMed  Google Scholar 

  58. El-Khairi R, Achermann JC (2012) Steroidogenic factor-1 and human disease. Semin Reprod Med 30:374–381

    Article  CAS  PubMed  Google Scholar 

  59. Jääskeläinen M, Prunskaite-Hyyryläinen R, Naillat F, Parviainen H, Anttonen M, Heikinheimo M, Liakka A, Ola R, Vainio S, Vaskivuo TE, Tapanainen JS (2010) WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol 317:106–111

    Article  PubMed  CAS  Google Scholar 

  60. Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC (2011) Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. PLoS ONE 6:e16366

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  61. Yang JH, Baskin LS, Disandro M (2010) Gender identity in disorders of sex development: review article. Urology 75:153–159

    Article  PubMed  Google Scholar 

  62. DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328

    Article  CAS  PubMed  Google Scholar 

  63. Ercan O, Kutlug S, Uysal O, Alikasifoglu M, Inceoglu D (2013) Gender identity and gender role in DSD patients raised as females: a preliminary outcome study. Front Endocrinol (Lausanne) 4:86

    Google Scholar 

  64. Money J (1975) Ablatio penis: normal male infant sex-reassigned as a girl. Arch Sex Behav 4:65–71

    Article  CAS  PubMed  Google Scholar 

  65. Chase C (1998) Surgical progress is not the answer to intersexuality. J Clinical Ethics 9:385–392

    CAS  Google Scholar 

  66. Bouvattler C, Mignot B, Lefevre H, Morel Y, Bougneres P (2006) Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab 91:3310–3315

    Article  CAS  Google Scholar 

  67. Hooper HT, Figuiredo BC, Pavan-Senn CC, de Lacerca L, Sandrini R, Mengarelli JK, Japp K, Karaviti LP (2004) Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. Clin Genet 65:183–190

    Article  CAS  PubMed  Google Scholar 

  68. Jürgensen M, Kleinemeier E, Lux A, Steemsa TD, Cohen-Kettenis PT, Hiort O, Thyen U, DSD Network Working Group (2010) Psychosexual development in children with disorder of sex development—results from the German Clinical Evaluation Study. J Pediatr Endocrinol Metab 23:565–578

    Article  PubMed  Google Scholar 

  69. Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, Thyen U (2014) Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 173:893–903

    Article  PubMed  Google Scholar 

  70. Mazur T, Sandberg DE, Perrin MA, Gallagher JA, MacGillivray MH (2004) Male pseudohermaphroditism: long-term quality of life outcome in five 46, XY individuals reared female. J Pediatr Endocrinol Metab 17:809–823

    Article  PubMed  Google Scholar 

  71. Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HF, Rock JA, Brown TR, Casella SJ, Maret A, Ngai KM, Money J, Berkovitz GD (2002) Ambiguous genitalia with perineo-scrotal hypospadias in 46, XY individuals: long-term medical, surgical and psychosexual outcome. Pediatrics 110:e31

    Article  PubMed  Google Scholar 

  72. Houk CP, Hughes IA, Ahmed SF, Lee PA (2006) Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics 118:753–757

    PubMed  Google Scholar 

  73. van der Zwan YG, Callens N, van Kuppenveld J, Kwak K, Drop SL, Kortmann B, Dessens AB, Wolffenbuttel KP, Dutch Study Group on DSD (2013) Long-term outcomes in males with disorders of sex development. J Urol 190:1038–1042

    Article  PubMed  Google Scholar 

  74. Warne G, Grover S, Hutson J, Sinclair A, Metcalfe S, Northam F, Freeman J, Murdoch Childrens Research Institute Sex Study Group (2005) A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 18:555–567

    Article  PubMed  Google Scholar 

  75. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S, Global DSD update consortium (2016) Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 85:158–180

    Article  CAS  PubMed  Google Scholar 

  76. Cheon CK (2011) Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr 170:1–8

    Article  CAS  PubMed  Google Scholar 

  77. Cohen-Kettenis PT (2005) Gender change in 46, XY persons with 5alfa-reductase-2 deficiency and 17alpha-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 34:399–410

    Article  PubMed  Google Scholar 

  78. Nordenström A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Nordenskjöld A (2010) A: sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients’ perception. J Clin Endocrinol Metab 95:3633–3640

    Article  PubMed  CAS  Google Scholar 

  79. Mendonca BB, Domenice S, Arnhold IJ, Costa EM (2009) 46, XY disorders of sex development (DSD). Clin Endocrinol 70:173–187

    CAS  Google Scholar 

  80. Kim SK, Kim J (2012) Disorder of sex development. Korean J Urol 53:1–8

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  81. Suresh D, Crawford J, Axelrad ME, Gunn SK, McCullough L, Smith OB, Sutton VR, Roth D, Karaviti LP, Dietrich JE (2013) Assessing sex assignment concordance with genotype and phenotype. Int J Pediatr Endocrinol 2013:7

    Article  PubMed  PubMed Central  Google Scholar 

  82. Özbaran B, Özen S, Gökşen D, Korkmaz Ö, Onay H, Özkınay F, Çoğulu Ö, Erermiş S, Köse S, Avanoğlu A, Ulman İ, Darcan Ş (2013) Psychiatric approaches for disorders of sex development: experience of a multidisciplinary team. J Clin Res Pediatr Endocrinol 5:229–235

    Article  PubMed  PubMed Central  Google Scholar 

  83. Sandberg D, Mazur T (2014) A non categorical approach to the psychosocial care of persons with DSD and their families. In: Kreukels BP, Steensma TD, de Vries AL (eds) Gender dysphoria and disorders of sex development. Focus on sexuality research. Springer, Berlin, pp 93–114

    Chapter  Google Scholar 

  84. Brook CGD, Clayton P, Brown R (2009) Brook’s clinical pediatric endocrinology, 6th edn. Wiley-Blackwell, Hoboken

    Book  Google Scholar 

  85. Chowdhury TK, Chowdhury MZ, Mili F, Hutson JM, Banu T (2014) Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood. Pediatr Surg Int 30:527–532

    Article  PubMed  Google Scholar 

  86. Steensma TD, Biemond R, de Boer F, Cohen-Kettenis PT (2011) Desisting and persisting gender dysphoria after childhood: a qualitative follow-up study. Clin Child Psychol Psychiatry 16:499–516

    Article  PubMed  Google Scholar 

  87. Steensma TD, McGuire JK, Kreukels BP, Beekman AJ, Cohen-Kettenis PT (2013) Factors associated with desistence and persistence of childhood gender dysphoria: a quantitative follow-up study. J Am Acad Child Adolesc Psychiatry 52:582–590

    Article  PubMed  Google Scholar 

  88. Cohen-Kettenis PT, Delemarre-van de Waal HA, Gooren LJ (2008) The treatment of adolescent transsexuals: changing insights. J Sex Med 5:1892–1897

    Article  PubMed  Google Scholar 

  89. Coleman E, Bockting W, Botzer M, Cohen-Kettenis P, DeCuypere G, Feldman J, Fraser L, Green J, Knudson G, Meyer WJ, Monstrey S, Adler RK, Brown GR, Devor AH, Ehrbar R, Ettner R, Eyler E, Garofalo R, Karasic DH, Lev AI, Mayer G, Meyer-Bahlburg H, Hall BP, Pfaefflin F, Rachlin K, Robinson B, Schechter LS, Tangpricha V, van Trotsenburg M, Vitale A, Winter S, Whittle S, Wylie KR, Zucker K (2011) Standards of care for the health of transsexual, transgender, and gender-nonconforming people, version 7. Int J Transgend 13:165–232

    Article  Google Scholar 

  90. Hembree WC, Choen-Kettenis P, Delemarre-van de Waal HA, Gooren LJ, Meyer WJ III, Spack NP, Tangpricha V, Montori VM, Endocrine Society (2009) Endocrine treatment of transsexual persons: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 94:3132–3154

    Article  CAS  PubMed  Google Scholar 

  91. Hewitt J, Zacharin M (2015) Hormone replacement in disorders of sex development: current thinking. Best Pract Res Clin Endocrinol Metab 29:437–447

    Article  CAS  PubMed  Google Scholar 

  92. Sadjadi S (2013) The endocrinologist’s office-puberty suppression: saving children from a natural disaster? J Med Humanit 3:255–260

    Article  Google Scholar 

  93. Park R, Consortium on the Management of Disorders of Sex Development (2006) Clinical guidelines for the management of disorders of sex development in childhood. Intersex Society of North America, Whitehouse station, NJ

    Google Scholar 

  94. Bukowski WM, McCauley E, Mazur T (2015) Disorders of sex development (DSD): peer relations and psychosocial well-being. Horm Metab Res 47:357–360

    Article  CAS  PubMed  Google Scholar 

  95. McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42:395–412 (ix–x)

    Article  PubMed  Google Scholar 

  96. Sandberg DE, Gardner M, Cohen-Kettenis PT (2012) Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 30:443–452

    Article  PubMed  PubMed Central  Google Scholar 

  97. DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328

    Article  CAS  PubMed  Google Scholar 

  98. Nordenström A (2015) Psychosocial factors in disorders of sex development in a long-term perspective: what clinical opportunities are there to intervene? Horm Metab Res 47:351–356

    Article  PubMed  CAS  Google Scholar 

  99. Schweizer K, Brunner F, Handford C, Richter-Appelt H (2014) Gender experience and satisfaction with gender allocation in adults with diverse intersex conditions (divergences of sex development, DSD). Psychol Sex 5:56–82

    Google Scholar 

  100. Schönbucher V, Schweizer K, Richter-Appelt H (2010) Sexual quality of life of individuals with disorders of sex development and a 46, XY karyotype: a review of international research. J Sex Marital Ther 36:193–215

    Article  PubMed  Google Scholar 

  101. Chadwick PM, Liao LM, Boyle M (2005) Size matters: experiences of atypical genital and sexual development in males. J Health Psychol 10:529–543

    Article  PubMed  Google Scholar 

  102. Minto CL, Liao KLM, Conway GS, Creighton SM (2003) Sexual function in women with complete androgen insensitivity syndrome. Fertile Steril 80:157–164

    Article  Google Scholar 

  103. Suorsa KI, Mullins AJ, Tackett AP, Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng E, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kropp B, Meyer S, Meyer T, Nokoff N, Palmer B, Poppas D, Paradis A, Yerkes E, Wisniewski AB, Mullins LL (2015) Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex. Development 194:1737–1742

    Google Scholar 

  104. Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL (1999) Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. J Pediatr 134:579–583

    Article  CAS  PubMed  Google Scholar 

  105. Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP (2015) Androgen insensitivity syndrome: management considerations from infancy to adulthood. Pediatr Endocrinol Rev 12:373–387

    PubMed  Google Scholar 

  106. Palmert MR, Dunkel L (2012) Clinical practice. Delayed puberty. N Engl J Med 366:443–453

    Article  CAS  PubMed  Google Scholar 

  107. Lee PA, Houk CP, Ahmed SF, Hughes IA (2006) International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. In: Consensus statement on management of intersex disorders. International consensus conference on intersex. pediatrics, vol 118, pp e488–e500

  108. Meyer-Bahlburg HF (2011) Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency. Endocr Dev 20:88–95

    CAS  PubMed  Google Scholar 

  109. Meyer-Bahlburg HF, Zolezal C, Baker SW, New MI (2008) Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 37:85–99

    Article  PubMed  Google Scholar 

  110. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133–4160

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  111. Meyer-Bahlburg HF, Dolezal C, Baker SW, Ehrhardt AA, New MI (2006) Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 35:667–684

    Article  PubMed  Google Scholar 

  112. Berembaum SA, Resnick SM (1997) Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia. Psychoneuroendocrinology 22:505–515

    Article  Google Scholar 

  113. Berenbaum SA, Hines M (1992) Early androgen are related to childhood sex-typed toy preferences. Psychol Sci 3:203–206

    Article  Google Scholar 

  114. Berenbaum SA, Snyder E (1995) Early hormonal influences on childhood sex-typed activity and playmate development of sexual orientation. Dev Psychol 31:130–136

    Article  Google Scholar 

  115. Dittmann RW, Kappes MH, Kappes ME, Borger D, Meyer-Bahlburg HF, Stegner H, Willig RH, Wallis H (1990) Congenital adrenal hyperplasia. I: gender-related behavior and attitudes in female patients and sisters. Psychoneuroendocrinology 15:421–434

    Article  CAS  PubMed  Google Scholar 

  116. Slijper FM (1984) Androgens and gender role behavior in girls with congenital adrenal hyperplasia (CAH). Progr Brain Res 61:417–422

    Article  CAS  Google Scholar 

  117. Ehrardt AA, Meywe-Bahlburg HF (1981) Effects of prenatal sex hormones on gender-related behavior. Science 211:1312–1318

    Article  Google Scholar 

  118. Leveroni CL, Berenbaum SA (1998) Early androgens effects on interest in infants: evidence from children with congenital adrenal hyperplasia. Dev Neuropsychol 14:321–324

    Article  Google Scholar 

  119. Zucker KJ, Bradely SJ, Olived G, Blake J, Fleming S, Hood J (1996) Psychosexual development of women with congenital adrenal hyperplasia. Horm Behav 30:300–318

    Article  CAS  PubMed  Google Scholar 

  120. Pasterski VL, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini CL, Spencer D, Neufeld S, Hines M (2015) 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 44:1363–1375

    Article  PubMed  Google Scholar 

  121. Dittman RW, Kappes ME, Kappes MH (1992) Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia. Pychoneurondocrinology 17:153–170

    Article  Google Scholar 

  122. Hines M, Brook C, Conway GS (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  PubMed  Google Scholar 

  123. Kuhnle U, Bullinger M (1997) Outcome of congenital adrenal hyperplasia. Pediatr Surg Int 12:511–515

    Article  CAS  PubMed  Google Scholar 

  124. May B, Boyle M, Grant D (1996) A comparative study of sexual experiences: women with diabetes and women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Health Psychol 1:479–492

    Article  CAS  PubMed  Google Scholar 

  125. Meyer-Bahlburg HF (1999) What causes low rates of child-bearing in congenital adrenal hyperplasia? J Clin Endocrinol Metabol 84:1844–1847

    Article  CAS  Google Scholar 

  126. Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with CAH due to 21-hydroxyase deficiency. N Eng J Med 316:178–182

    Article  CAS  Google Scholar 

  127. Van der Zwag YG, Janssen EH, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van de Berg M, Drop SL, Dessens AB, Beerendonk C, Dutch Study Group on DSD (2013) Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study. J Sex Med 10:866–875

    Article  CAS  Google Scholar 

  128. Frisen L, Nordenstrom A, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Möller A, Nordenskjöld A (2009) Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metabol 94:3432–3439

    Article  CAS  Google Scholar 

  129. Dessens AN, Slijper FM, Drop SL (2005) Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 34:389–397

    Article  PubMed  Google Scholar 

  130. Gupta DK, Shilpa S, Amini AC, Gupta M, Aggarwal G, Deepika G, Jamlesh K (2006) Congenital adrenal hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr Surg Int 22:905–909

    Article  CAS  PubMed  Google Scholar 

  131. Meyer-Bahlburg HF, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW (1996) Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav 30:319–332

    Article  CAS  PubMed  Google Scholar 

  132. Jorge JC, Echeverri C, Medina Y, Acevedo P (2008) Male gender identity in an XX individual with congenital adrenal hyperplasia. J Sex Med 5:122–131

    Article  PubMed  Google Scholar 

  133. Arlt W, Krone N (2007) Adult consequences of congenital adrenal hyperplasia. Horm Res 68:158–164

    Article  PubMed  Google Scholar 

  134. Berenbaum SA, Bailey JM (2003) Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metabol 88:1102–1106

    Article  CAS  Google Scholar 

  135. Meyer-Balhlburg HF (2009) Male gender identity in a XX individuals with congenital adrenal hyperplasia. J Sex Med 6:297–298

    Article  Google Scholar 

  136. Sharma S, Gupta DK (2008) Gender assignment and hormonal treatment for disorders at sexual differentiation. Pediatr Surg Int 24:1131–1135

    Article  PubMed  Google Scholar 

  137. Gupta D, Bharadwaj M, Sharma S, Ammini AC, Gupta DK (2010) Long-term psychosocial adjustment, satisfaction related to gender and the family equations in disorder of sexual differentiation with male sex assignment. Pediatr Surg Int 26:955–958

    Article  PubMed  Google Scholar 

  138. Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjorl A, Frisen L, Nordenstrom A (2014) Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia; epidemiological studies in nonbiased national cohort in Sweden. J Clin Endocrinol Metab 99:1425–1432

    Article  CAS  PubMed  Google Scholar 

  139. Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F et al (2011) Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patient with primary adrenal insufficiency. Clin endocrinol (Oxf) 74:166–173

    Article  Google Scholar 

  140. Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP (2012) A model of delivering multi-disciplinary care to people with 46, XY DSD. J Pediatr Urol 8:7–16

    Article  PubMed  Google Scholar 

  141. McCarty BM, Migeon CJ, Meyer-Bahlburg HF, Zacur H, Wisniewski AB (2006) Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metabol 19:873–877

    Article  Google Scholar 

  142. Cornet D, Alvarez S, Antoine JM, Tibi C, Mandelbaum J, Plachot M, Salat-Baroux J (1990) Pregnancy following ovum donation in gonadal dysgenesis. Hum Reprod 5:291–293

    CAS  PubMed  Google Scholar 

  143. Michala L, Goswami D, Creighton SM, Conway GS (2008) Swyer syndrome: presentation and outcomes. BJOG 115:737–741

    Article  CAS  PubMed  Google Scholar 

  144. Kan AJ, Abdalla JI, Oscarsson T (1997) Two successful pregnancies in 46, XY patient. Hum Reprod 12:1434–1435

    Article  CAS  PubMed  Google Scholar 

  145. Plante BJ, Fritz MA (2008) A case report of successful pregnancy in a patient with pure 46, XY gonadal dysgenesis. Fertil Steril 90:2015.e1–2015.e2

    Article  Google Scholar 

  146. Selvaraj K, Ganesh V, Selvaraj P (2002) Successful pregnancy in a patient with a 46, XY karyotype. Fertil Steril 78:419–420

    Article  PubMed  Google Scholar 

  147. Cools M, Looijenga LH, Wollfenbuttel KP, Drop SL (2009) Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. Worl J Pediatr 5:93–102

    Article  CAS  Google Scholar 

  148. Migeon CJ, Krishnan S, Wisniewski AB (2007) Ambiguous genitalia in the newborn. In: Pediatric endocrinology, 1st edn, Chap. 16. http://www.endotext.org/pediatrics/pediatrics10/pediatricsframe10.htm

  149. Mazur T (2005) Gender dysphoria and gender changes in androgen insensitivity or micropenis. Arch Sex Behav 34:411–421

    Article  PubMed  Google Scholar 

  150. Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012) Androgen insensitivity syndrome. Lancet 380:1419–1428

    Article  CAS  PubMed  Google Scholar 

  151. Liu AX, Shi HY, Cai ZJ, Liu A, Zhang D, Huang HF, ** HM (2014) Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. Hum Reprod 29:1413–1419

    Article  CAS  PubMed  Google Scholar 

  152. Nakhal RS, Hall-Craggs M, Freeman A, Kirkham A, Conway GS, Arora R, Woodhouse CR, Wood DN, Creighton SM (2013) Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology 268:153–160

    Article  PubMed  Google Scholar 

  153. Masica DN, Money J, Ehrhardt AA (1971) Fetal feminization and female gender identity in the testicular feminizing syndrome of androgen insensitivity. Arch Sex Behav 1:131–142

    Article  CAS  PubMed  Google Scholar 

  154. Hines M, Ahmed SF, Hughes IA (2003) Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav 32:93–101

    Article  PubMed  Google Scholar 

  155. Melo KF, Menodanca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ (2003) Clinical, hormonal, behavioral and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 88:3241–3250

    Article  CAS  PubMed  Google Scholar 

  156. Jürgensen M, Hiort O, Holterhus PM, Thyen U (2007) Gender role behavior in children with XY karyotype and disorders of sex development. Horm Behav 51:443–453

    Article  PubMed  CAS  Google Scholar 

  157. Kulshreshtha B, Philibert P, Eunice M, Khandelwal SK, Mehta M, Audran F, Paris F, Sultan C, Ammini AC (2009) Apparent male gender identity in a patient with complete androgen insensitivity syndrome. Arch Sex Behav 38:873–875

    Article  PubMed  Google Scholar 

  158. T’Sjoen G, De Cuypere G, Monstray S, Hoebeke P, Freedman FK, Appari M, Holterhus PM, Van Borsel J, Cools M (2011) Male gender identity in complete androgen insensitivity syndrome. Arch Sex Behav 40:635–638

    Article  PubMed  Google Scholar 

  159. Herdt GH, Davidson J (1988) The Sambia “turnim-man”: sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. Arch Sex Behav 17:33–56

    Article  CAS  PubMed  Google Scholar 

  160. Ademola Akesode F, Meyer WJ, Migeon CJ (1977) Male pseudohermaphroditism with gynecomastia due to testicular 17-ketosteroid reductase deficiency. Clin Endocrinol (Oxf) 7:443–452

    Article  CAS  Google Scholar 

  161. Bertelloni S, Dati E, Hiort O (2009) Diagnosis of 17beta-hydroxysteoid dehydrogenase deficiency. Expert Rev Endocrinol Metab 4:53–65

    Article  CAS  Google Scholar 

  162. Hiort O, Renecke S, Thyen U, Jürgensen M, Holterhus PM, Schön D, Richter-Appelt H (2003) Puberty in disorders of somatosexual differentiation. J Pediatr Endocrinol Metab 16:297–306

    CAS  PubMed  Google Scholar 

  163. Boehemer AL, Brinkmann AO, Sandjuij LA, Halleym DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL (1999) 17beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics and word wide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 84:4713–4721

    Google Scholar 

  164. Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R (2013) The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature. Minerva Endocrinol 38:113–122

    PubMed  Google Scholar 

  165. Jürgensen M, Hampel E, Hiort O, Thyen U (2006) “Any decision is better than none” decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency. Arch Sex Behav 35:359–571

    Article  PubMed  Google Scholar 

  166. Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD (2000) Male pseudohermaphroditism due to 17beta-hydroxysteroid dehydrogenase-3 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 79:299–309

    Article  CAS  Google Scholar 

  167. Rosler A (1992) Steroid 17beta-hydroxysteroid dehydrogenase-3 deficiency in man: an inherited form of male pseudohermaphroditism. J Steroid Biochem Mol Biol 43:989–1002

    Article  CAS  PubMed  Google Scholar 

  168. Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM (2013) Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? Int J Pediatr Endocrinol 2013:15

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  169. Deeb A, Mason C, Lee YS, Hughes IA (2005) Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 63:56–62

    Article  CAS  Google Scholar 

  170. Joseph AA, Shabir I, Marumadi E, Dada R, Ammini AC, Mehta M (2013) Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. J Pediatr Endocrinol Metabol 26:915–920

    Article  CAS  Google Scholar 

  171. Money J, Onguro C (1974) Behavioral sexology: ten cases of genetic male intersexuality with impaired prenatal and pubertal androgenization. Arch Sex Behav 3:181–205

    Article  CAS  PubMed  Google Scholar 

  172. Lee PA, Houk CP (2004) Outcome studies among men with micropenis. J Pediatr Endocrinol Metab 17:1043–1053

    PubMed  Google Scholar 

  173. Callens N, Hoebeke P (2014) Phalloplasty: a panacea for 46, XY disorders of sex development conditions with penile deficiency? Endocr Dev 24:222–233

    Google Scholar 

  174. Callens N, De Cuypere G, T’Sjoen G, Monstrey S, Lumen N, Van Laecke E, Hoebeke P, Cools M (2014) Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study. World J Urol 33:137–143

    Article  PubMed  Google Scholar 

  175. Callens N, De Cuypere G, Van Hoecke E, T’Sjoen G, Monstrey S, Cools M, Hoebeke P (2013) Sexual quality of life after hormonal and surgical treatment, including phalloplasty in men with micropenis: a review. J Sex Med 10:3006–3018

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  177. Diamond M, Sigmudson HK (1997) Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 151:1046–1105

    Article  CAS  PubMed  Google Scholar 

  178. Reiner WG (1997) Sex assignment in the neonate with intersex or inadequate genitalia. Arch Pediatr Adolesc Med 151:1044–1045

    Article  CAS  PubMed  Google Scholar 

  179. Meyer-Bahlburg HF (2005) 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

    Article  PubMed  Google Scholar 

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

    Article  CAS  Google Scholar 

  181. Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB (2011) Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol 186:1642–1648

    Article  PubMed  Google Scholar 

  182. Schonbucher VB, Landolft MA, Gobert R, Weber DM (2008) Psychosexual development of children and adolescents with hypospadias. J Sex Med 5:1365–1373

    Article  PubMed  Google Scholar 

  183. Sandberg DE, Meyer-Bahlburg HF, Yager TJ, Hensle TW, Levitt SB, Kogan SJ, Reda EF (1995) Gender development in boys born with hypospadias. Psychoneuroendocrinology 20:693–709

    Article  CAS  PubMed  Google Scholar 

  184. Inoubli A, De Cuypere G, Rubens R, Heylens G, Elaut E, Van Caenegem E, Menten B, T’Sjoen G (2011) Karyoty**, is it worthwhile in transsexualism? J Sex Med 8:475–478

    Article  PubMed  Google Scholar 

  185. Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N (1991) A cytogenetic survey of 14,835 consecutive liveborns. **rui Idengaku Zasshi 36:117–129

    Article  CAS  PubMed  Google Scholar 

  186. Fisher AD, Castellini G, Casale H, Fanni E, Bandini E, Campone B, Ferruccio N, Maseroli E, Boddi V, Dèttore D, Pizzocaro A, Balercia G, Oppo A, Ricca V, Maggi M (2015) Hypersexuality, paraphilic behaviors, and gender dysphoria in individuals with Klinefelter’s syndrome. J Sex Med 12:2413–2424

    Article  PubMed  Google Scholar 

  187. Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endocrinol Metab 20:577–598

    Article  CAS  PubMed  Google Scholar 

  188. 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, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N (2014) Changes over time in sex assignment for disorders of sex development. Pediatrics 134:e710–e715

    Article  PubMed  Google Scholar 

  189. Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF (2014) Novel associations in disorders of sex development: findings from the I-DSD registry. J Clin Endocrinol Metab 99:348–355

    Article  CAS  Google Scholar 

  190. Hiort O, Wünsch L, Cools M, Looijenga L, Cuckow P (2012) Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development. J Pediatr Urol 8:624–628

    Article  PubMed  Google Scholar 

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Fisher, A.D., Ristori, J., Fanni, E. et al. Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma. J Endocrinol Invest 39, 1207–1224 (2016). https://doi.org/10.1007/s40618-016-0482-0

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