Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

Abstract

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery.

This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages.

Keywords

disorders of sex development - DSD - psychosocial - psychosexual - gender identity - gender role - sexual orientation

• References

• 1 Crouter AC, Manke BA, McHale SM. The family context of gender intensification in early adolescence. Child Dev 1995; 66 (2) 317-329
• 2 Pickles A, Hill J. Developmental psychopathology. In: Cicchetti D, Cohen D, , eds. Developmental psychopathology Theory and method. 2nd ed. Hoboken, New Jersey: John Wiley & Sons, Inc; 2006: 211-43
• 3 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. Pediatrics 2006; 118 (2) e488-e500
• 4 Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child 2010; 95 (8) 618-623
• 5 Ahmed SF, Achermann JC, Arlt W , et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clinical Endocrinology (Oxf.) 2011; 75: 12-26
• 6 Chitayat D, Glanc P. Diagnostic approach in prenatally detected genital abnormalities. Ultrasound Obstet Gynecol 2010; 35 (6) 637-646
• 7 Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306 (6) 627-636
• 8 Marteau TM, Nippert I, Hall S , et al; DADA Study Group. Decision-making after diagnosis of fetal abnormality. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn 2002; 22 (7) 562-566
• 9 Abramsky L, Hall S, Levitan J, Marteau TM. What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study. BMJ 2001; 322 (7284) 463-466
• 10 Girardin CM, Van Vliet G. Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome. Acta Paediatr 2011; 100 (6) 917-922
• 11 Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003; 349 (8) 776-788
• 12 Evans MI, Chrousos GP, Mann DW , et al. Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia. JAMA 1985; 253 (7) 1015-1020
• 13 Dreger A, Feder E, Tamar-Mattis A. Preventing Homosexuality (and Uppity Women) in the Womb? Bioethics Forum. 2010. http://www.thehastingscenter.org/Bioethicsforum/Post.aspx?id=4754&blogid=140&terms=dreger+and+%23filename+*.html . Accessed July 15, 2010
• 14 Speiser PW, Azziz R, Baskin LS , et al; Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010; 95 (9) 4133-4160
• 15 Matthews SG. Antenatal glucocorticoids and the developing brain: mechanisms of action. Semin Neonatol 2001; 6 (4) 309-317
• 16 Murphy KE, Hannah ME, Willan AR , et al; MACS Collaborative Group. Multiple courses of antenatal corticosteroids for preterm birth (MACS): a randomised controlled trial. Lancet 2008; 372 (9656) 2143-2151
• 17 Lajic S, Nordenström A, Hirvikoski T. Long-Term Outcome of Prenatal Treatment of Congenital Adrenal Hyperplasia. Endocrine Development. In: Flück C, Miller W, , eds. Disorders of the Human Adrenal Cortex. Basel: Karger; 2008: 82-98
• 18 Huang WL, Beazley LD, Quinlivan JA, Evans SF, Newnham JP, Dunlop SA. Effect of corticosteroids on brain growth in fetal sheep. Obstet Gynecol 1999; 94 (2) 213-218
• 19 Hirvikoski T, Lindholm T, Lajic S, Nordenström A. Gender role behaviour in prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia—a pilot study. Acta Paediatr 2011; 100 (9) e112-e119
• 20 Hirvikoski T, Nordenström A, Lindholm T , et al. Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab 2007; 92 (2) 542-548
• 21 Trautman PD, Meyer-Bahlburg HF, Postelnek J, New MI. Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: results of a pilot study. Psychoneuroendocrinology 1995; 20 (4) 439-449
• 22 Kazak AE, Rourke MT, Crump TA, Roberts MC. Families and other systems in pediatric psychology. In: Handbook of pediatric psychology. New York, NY: Guildford Press; 2003: 159-75
• 23 Warne GL, Raza J. Disorders of sex development (DSDs), their presentation and management in different cultures. Rev Endocr Metab Disord 2008; 9 (3) 227-236
• 24 Dessens AB, Slijper FME, Drop SLS. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005; 34 (4) 389-397
• 25 Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav 2005; 34 (4) 411-421
• 26 Cohen-Kettenis PT. Gender change in 46,XY persons with 5α-reductase-2 deficiency and 17β-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 2005; 34 (4) 399-410
• 27 Meyer-Bahlburg HFL. 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 (4) 423-438
• 28 Ruble D, Martin C, Berenbaum S. Gender development. In: Damon W, Lerner R, Eisenberg N, , eds. Handbook of child psychology: Social, emotional, and personality 6ed. New York: Wiley; 2006: 858-932
• 29 Berenbaum SA. Psychological outcome in children with disorders of sex development: implications for treatment and understanding typical development. Annu Rev Sex Res 2006; 17: 1-38
• 30 Cohen-Kettenis P. Psychological long-term outcome in intersex conditions. Horm Res 2005; 64 (Suppl. 02) 27-30
• 31 Richter-Appelt H, Discher C, Gedrose B. Gender identity and recalled gender related childhood play-behaviour in adult individuals with different forms of intersexuality. Anthropol Anz 2005; 63 (3) 241-256
• 32 de Vries AL, Doreleijers TA, Cohen-Kettenis PT. Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications. Pediatr Endocrinol Rev 2007; 4 (4) 343-351
• 33 Stout SA, Litvak M, Robbins NM, Sandberg DE. Congenital Adrenal Hyperplasia: Classification of studies employing psychological endpoints. International Journal of Pediatric Endocrinology. 2010 ;2010(doi:10.1155/2010/191520):11 pages. http://www.hindawi.com/journals/ijpe/2010/191520/
• 34 Meyer-Bahlburg HF, 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 (6) 667-684
• 35 Frisén L, Nordenström A, Falhammar H , et al. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab 2009; 94 (9) 3432-3439
• 36 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 (11) 5119-5124
• 37 Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 1974; 186 (4170) 1213-1215
• 38 Richter-Appelt H, Discher C, Gedrose B. Gender identity and recalled gender related childhood play-behaviour in adult individuals with different forms of intersexuality. Anthropol Anz 2005; 63: 241-256
• 39 Maimoun L, Philibert P, Cammas B , et al. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 2011; 96 (2) 296-307
• 40 T'Sjoen G, De Cuypere G, Monstrey S , et al. Male gender identity in complete androgen insensitivity syndrome. Archives of Sexual Behavior 2011; 40 (3) 635-638
• 41 Hines M, Ahmed SF, Hughes IA. Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav 2003; 32 (2) 93-101
• 42 Matsubara K, Iwamoto H, Yoshida A, Ogata T. Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency. Fertil Steril 2010; 94 (7) 2770-10 , e7–e10
• 43 Thyen U, Krege S. [DSD/intersexuality network. A project in the BMBF program for rare diseases]. Urologe A 2007; 46 (9) 1304-1306
• 44 Auyeung B, Baron-Cohen S, Ashwin E , et al. Fetal testosterone predicts sexually differentiated childhood behavior in girls and in boys. Psychol Sci 2009; 20 (2) 144-148
• 45 Hines M, Golombok S, Rust J, Johnston KJ, Golding J ; Avon Longitudinal Study of Parents and Children Study Team. Testosterone during pregnancy and gender role behavior of preschool children: a longitudinal, population study. Child Dev 2002; 73 (6) 1678-1687
• 46 Hines M. Prenatal testosterone and gender-related behaviour. Eur J Endocrinol 2006; 155 (Suppl. 01) S115-S121
• 47 Knickmeyer RC, Wheelwright S, Taylor K, Raggatt P, Hackett G, Baron-Cohen S. Gender-typed play and amniotic testosterone. Dev Psychol 2005; 41 (3) 517-528
• 48 Cohen-Bendahan CC, van de Beek C, Berenbaum SA. Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings. Neurosci Biobehav Rev 2005; 29 (2) 353-384
• 49 Servin A, Nordenström A, Larsson A, Bohlin G. Prenatal androgens and gender-typed behavior: a study of girls with mild and severe forms of congenital adrenal hyperplasia. Dev Psychol 2003; 39 (3) 440-450
• 50 Liao LM, Doyle J, Crouch NS, Creighton SM. Dilation as treatment for vaginal agenesis and hypoplasia: a pilot exploration of benefits and barriers as perceived by patients. J Obstet Gynaecol 2006; 26 (2) 144-148
• 51 Ismail-Pratt IS, Bikoo M, Liao L-M, Conway GS, Creighton SM. Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. Hum Reprod 2007; 22 (7) 2020-2024
• 52 Foundation for Informed Medical Decision Making. 2011 http://www.informedmedicaldecisions.org/ . Accessed October 9, 2011.
• 53 Strauss RP, Sharp MC, Lorch SC, Kachalia B. Physicians and the communication of “bad news”: parent experiences of being informed of their child's cleft lip and/or palate. Pediatrics 1995; 96 (1 Pt 1) 82-89
• 54 Committee on Health Literacy. Institute of Medicine, Nielsen-Bohlman L, Panzer AM, Kindig DA. Health literacy: A prescription to end confusion. Washington, DC: The National Academies Press; 2004
• 55 Money J. Sex errors of the body and related syndromes: a guide to counseling children, adolescents, and their families. Baltimore, MD: Paul H. Brookes Publishing Co; 1994
• 56 Money J. Sex Errors of the Body: Dilemmas, Education, Counseling. Baltimore: The Johns Hopkins Press; 1968
• 57 Meyer-Bahlburg HFL, Martini L. Gender assignment and psychosocial management. In: Encyclopedia of Endocrine Diseases: Elsevier, Inc; 2004:125–34.
• 58 Carmichael P, Ransley P. Telling children about a physical intersex condition. Dialogues in Pediatric Urology 2002; 25: 7-8
• 59 Harbeck-Weber C, Fisher J, Dittner C. Promoting coping and enhancing adaptation to illness. In: Roberts M, , ed. Handbook of Pediatric Psychology. 3rd ed. New York, NY: Guilford Press; 2003: 99-118
• 60 Brewer S, Gleditsch SL, Syblik D, Tietjens ME, Vacik HW. Pediatric anxiety: child life intervention in day surgery. J Pediatr Nurs 2006; 21 (1) 13-22
• 61 Money J, Lamacz M. Genital examination and exposure experienced as nosocomial sexual abuse in childhood. J Nerv Ment Dis 1987; 175 (12) 713-721
• 62 Chase C. What is the agenda of the intersex patient advocacy movement?. Endocrinologist 2003; 13: 240-242
• 63 Crissman H, Warner L, Gardner M , et al. Children with disorders of sex development: a qualitative study of early parental experience. International Journal of Pediatric Endocrinology 2011;2011:10 http://www.ijpeonline.com/content/2011/1/10
• 64 Standards of Care for the Health of Transsexual, Transgender, and Gender Nonconforming People. 2011. (Accessed August 20, 2012, at http://www.wpath.org/documents/SOC%20V7%2003-17-12.pdf )
• 65 Meyer-Bahlburg HFL. Variants of gender differentiation in somatic disorders of sex development: recommendations for Version 7 of the World Professional Association for Transgender Health's Standards of Care. Int J Transgenderism 2009; 11: 226-237
• 66 Zucker KJ. Measurement of psychosexual differentiation. Arch Sex Behav 2005; 34 (4) 375-388
• 67 Zucker K, Cohen-Kettinis P. Gender identity disorder in children and adolescents. In: Rowland D, Incrocci L, , eds. Handbook of Sexual and Gender Identity Disorders. New York, NY: Wiley & Sons; 2008: 376-422
• 68 Menvielle EJ, Tuerk C, Jellinek MS. A support group for parents of gender-nonconforming boys. J Am Acad Child Adolesc Psychiatry 2002; 41 (8) 1010-1013
• 69 Mazur T, Colsman M, Sandberg D. Intersex: definition, examples, gender stability, and the case against merging with transsexualism. In: Ettner R, Monstrey S, Eyler AE, , eds. Principles of Transgender Medicine and Surgery. Binghamton, NY: Haworth Press; 2007: 235-259
• 70 Lang C, Kuhnle U. Intersexuality and alternative gender categories in non-Western cultures. Horm Res 2008; 69 (4) 240-250
• 71 Ismail I, Creighton S. Surgery for intersex. Rev Gynaecol Pract 2005; 5: 57-64
• 72 Schönbucher V, Schweizer K, Rustige L, Schützmann K, Brunner F, Richter-Appelt H. Sexual quality of life of individuals with 46,XY disorders of sex development. Journal of Sexual Medicine Epub 2010; Jan 6
• 73 Kuhnle U, Bullinger M, Schwarz HP. The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life. Eur J Pediatr 1995; 154 (9) 708-716
• 74 Slijper F, van der Kamp H, Brandenbrug H, de Muinck Keizer-Schrama S, Drop S, Molenaar J. Evaluation of psychosexual development of young women with congenital adrenal hyperplasia: A pilot study. J Sex Educ Ther 1992; 18: 200-207
• 75 Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J. Psychosexual development of women with congenital adrenal hyperplasia. Horm Behav 1996; 30 (4) 300-318
• 76 Hines M, Brook C, Conway GS. 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 2004; 41 (1) 75-81
• 77 Reader TW, Flin R, Mearns K, Cuthbertson BH. Developing a team performance framework for the intensive care unit. Crit Care Med 2009; 37 (5) 1787-1793
• 78 Salas E, DiazGranados D, Weaver SJ, King H. Does team training work? Principles for health care. Acad Emerg Med 2008; 15 (11) 1002-1009
• 79 Lemieux-Charles L, McGuire WL. What do we know about health care team effectiveness? A review of the literature. Med Care Res Rev 2006; 63 (3) 263-300
• 80 Bell ST. Deep-level composition variables as predictors of team performance: a meta-analysis. J Appl Psychol 2007; 92 (3) 595-615