skip to main content

Disorders of Sex Development: A Review of Medical and Psychosocial Aspects

*Fanti Saktini orcid  -  Department of Psychiatry, Diponegoro University, Semarang, Indonesia/Diponegoro National Hospital, Indonesia
Hang Gunawan Asikin  -  Department of Psychiatry, Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
Widodo Sarjana A.S  -  Department of Psychiatry, Diponegoro University, Semarang, Indonesia/Diponegoro National Hospital, Indonesia
Agustini Utari orcid  -  Department of Pediatric Endocrinology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
Open Access Copyright (c) 2024 Diponegoro International Medical Journal
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

Citation Format:
Abstract

Background: Disorders of Sex Development (DSD) refer to a spectrum of congenital conditions involving atypical chromosomal, gonadal, or phenotypic development. Although recent studies have improved our understanding of the medical management of DSD, the psychosocial impact and the role of multidisciplinary care in addressing these challenges remain less well known.

Objective: This review aims to examine the classification, diagnostic approaches, and medical and psychosocial challenges associated with DSD, while also highlighting the importance of multidisciplinary support.

Methods: A narrative review was conducted to explore the current research and clinical guidelines on DSD, including studies on medical management and psychosocial interventions.

Results: The review found that early diagnosis and management are essential to reducing life-threatening risks and psychosocial distress in individuals with DSD. The impact of societal stigma, gender identity complexities, and increased rates of anxiety and depression were observed to contribute to body image concerns. A multidisciplinary care team, involving psychiatrists, endocrinologists, and other specialists, was highlighted as critical for holistic patient care.

Conclusion: The findings underscore the importance of a multidisciplinary approach in addressing both the medical and psychosocial aspects of DSD. While collaborative decision-making and individualized care strategies showed positive outcomes, further research is needed to optimize long-term health and quality of life for individuals with DSD.
Fulltext View|Download
Keywords: DSD; Disorders of Sex Development; Gender Identity; Multidisciplinary care; Psychosocial aspects

Article Metrics:

  1. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Vol. 85, Hormone research in paediatrics. 2016. p. 158–80
  2. Consensus statement on management of intersex disorders. Pediatrics [Internet]. 2006;118(2):e488–500. Available from: www.sickkids.ca/childphysiology/cpwp/
  3. Parsa AA, New MI. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Vol. 165, Journal of Steroid Biochemistry and Molecular Biology. Elsevier Ltd; 2017. p. 2–11
  4. Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K. Understanding the genetic aetiology in patients with XY DSD. Vol. 106, British Medical Bulletin. 2013. p. 67–89
  5. Raza J, Zaidi SZ, Warne GL. Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years. Vol. 33, Best Practice and Research: Clinical Endocrinology and Metabolism. Bailliere Tindall Ltd; 2019
  6. Krege S, Eckoldt F, Richter-Unruh A, Köhler B, Leuschner I, Mentzel HJ, et al. Variations of sex development: The first German interdisciplinary consensus paper. J Pediatr Urol. 2019 Apr 1;15(2):114–23
  7. Falhammar H, Frisén L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjöld A, et al. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism. 2014 Dec 1;99(12):E2715–21
  8. Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society* clinical practice guideline. Journal of Clinical Endocrinology and Metabolism. 2018;103(11):4043–88
  9. Ediati A, Maharani N, Utari A. Sociocultural Aspects of Disorders of Sex Development. Wiley Periodicals. 2016;108:380–3
  10. Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, et al. A Gender Assessment Team: Experience with 250 patients over a period of 25 years. Vol. 9, Genetics in Medicine. 2007. p. 348–57
  11. Arboleda VA, Sandberg DE, Vilain E. DSDs: Genetics, underlying pathologies and psychosexual differentiation. Vol. 10, Nature Reviews Endocrinology. Nature Publishing Group; 2014. p. 603–15
  12. Reiner WG, Reiner DT. Thoughts on the nature of identity: How disorders of sex development inform clinical research about gender identity disorders. J Homosex. 2012 Mar;59(3):434–49
  13. Leibowitz SF, Spack NP. The Development of a Gender Identity Psychosocial Clinic: Treatment Issues, Logistical Considerations, Interdisciplinary Cooperation, and Future Initiatives. Vol. 20, Child and Adolescent Psychiatric Clinics of North America. 2011. p. 701–24
  14. Meyer-Bahlburg HFL. Psychoendocrinology of Congenital Adrenal Hyperplasia. In: Genetic Steroid Disorders. Elsevier Inc.; 2014. p. 285–300
  15. T.W. Sadler. Langman’s Medical Embryology. 7th ed. Lippincott Williams & Wilkins, a Wolters Kluwer business; 2019
  16. Ahmed SF, Rodie M. Investigation and initial management of ambiguous genitalia. Vol. 24, Best Practice and Research: Clinical Endocrinology and Metabolism. 2010. p. 197–218
  17. Özbey H, Etker S. Disorders of sexual development in a cultural context. Vol. 11, Arab Journal of Urology. 2013. p. 33–9
  18. Jorge JC, Echeverri C, Medina Y, Acevedo P. Male gender identity in an XX individual with congenital adrenal hyperplasia. Journal of Sexual Medicine. 2008;5(1):122–31
  19. de Jesus LE, Costa EC, Dekermacher S. Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? Vol. 54, Journal of Pediatric Surgery. W.B. Saunders; 2019. p. 2421–7
  20. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int. 2000 Jun;85:120–4
  21. Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, et al. Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016 Nov 29;17(1)
  22. Juniarto AZ. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 2018
  23. Yatsenko SA, Witchel SF. Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know. Semin Perinatol. 2017 Jun 1;41(4):232–43
  24. Guerrero-Fernández J, Azcona San Julián C, Barreiro Conde J, Bermúdez de la Vega JA, Carcavilla Urquí A, Castaño González LA, et al. Management guidelines for disorders / different sex development (DSD). An Pediatr (Engl Ed). 2018 Nov 1;89(5):315.e1-315.e19
  25. Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society* clinical practice guideline. Journal of Clinical Endocrinology and Metabolism. 2018;103(11):4043–88
  26. Ankarberg-Lindgren C, Kriström B, Norjavaara E. Physiological estrogen replacement therapy for puberty induction in girls: A clinical observational study. Horm Res Paediatr. 2014;81(4):239–44
  27. Dangle PP, Lee A, Chaudhry R, Schneck FX. Surgical Complications Following Early Genitourinary Reconstructive Surgery for Congenital Adrenal Hyperplasia—Interim Analysis at 6 Years. Urology. 2017 Mar 1;101:111–5
  28. Fallat ME, Hertweck P, Ralston SJ. Surgical and Ethical Challenges in Disorders of Sexual Development. Vol. 59, Advances in Pediatrics. 2012. p. 283–302
  29. Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, et al. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Vol. 24, Best Practice and Research: Clinical Endocrinology and Metabolism. 2010. p. 311–24
  30. Wang LC, Poppas DP. Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every endocrinologist should know. Vol. 165, Journal of Steroid Biochemistry and Molecular Biology. Elsevier Ltd; 2017. p. 137–44
  31. Ediati A. Disorders of Sex Development in Indonesia: The course of psychological development in late identified patients. GVO drukkers & vormgevers B.V.; 2014
  32. Joseph AA, Kulshreshtha B, Shabir I, Marumudi E, George TS, Sagar R, et al. Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India. Arch Sex Behav. 2017 Feb 1;46(2):361–7
  33. Wisniewski AB, Sandberg DE. Parenting children with disorders of sex development (DSD): A developmental perspective beyond gender. Vol. 47, Hormone and Metabolic Research. Georg Thieme Verlag; 2015. p. 375–9
  34. Meyer-Bahlburg HFL, Reyes-Portillo JA, Khuri J, Ehrhardt AA, New MI. Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia. Arch Sex Behav. 2017 Feb 1;46(2):341–51
  35. De Vries ALC, Roehle R, Marshall L, Frisén L, Van De Grift TC, Kreukels BPC, et al. Mental Health of a Large Group of Adults with Disorders of Sex Development in Six European Countries. Psychosom Med. 2019 Sep 1;81(7):629–40
  36. Falhammar H, Claahsen-Van der Grinten H, Reisch N, Slowikowska-Hilczer J, Nordenström A, Roehle R, et al. Health status in 1040 adults with disorders of sex development (DSD): A European multicenter study. Endocr Connect. 2018 Mar 1;7(3):466–78
  37. Nock MK, Borges G, Bromet EJ, Alonso J, Angermeyer M, Beautrais A, et al. Cross-National Prevalence and Risk Factors for Suicidal Ideation, Plans, and Attempts. The British Journal of Psychiatry. 2008 Feb;192:98–105
  38. Ediati A, Juniarto AZ, Birnie E, Drop SLS, Faradz SMH, Dessens AB. Body image and sexuality in indonesian adults with a disorder of sex development (DSD). J Sex Res. 2015 Jan 2;52(1):15–29
  39. Gupta D, Bhardwaj M, Sharma S, Ammini AC, Gupta DK. Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment. Pediatr Surg Int. 2010 Oct;26(10):955–8
  40. Ediati A, Faradz SMH, Juniarto AZ, van der Ende J, Drop SLS, Dessens AB. Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development. J Psychosom Res. 2015 Jul 1;79(1):76–84
  41. Thyen U, Lux A, Jürgensen M, Hiort O, Köhler B. Utilization of health care services and satisfaction with care in adults affected by Disorders of Sex Development (DSD). J Gen Intern Med. 2014;29(SUPPL. 3)
  42. Thyen U, Ittermann T, Flessa S, Muehlan H, Birnbaum W, Rapp M, et al. Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE). BMC Health Serv Res. 2018 Jul 5;18(1)
  43. Moran ME, Karkazis K. Developing a multidisciplinary team for disorders of sex development: Planning, implementation, and operation tools for care providers. Adv Urol. 2012;
  44. Sandberg DE, Gardner M, Callens N, Mazur T. Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD—Translational research network. Am J Med Genet C Semin Med Genet. 2017 Jun 1;175(2):279–92

Last update:

No citation recorded.

Last update:

No citation recorded.