Vol 71, No 2 (2020)
Original paper
Published online: 2020-02-28

open access

Page views 2455
Article views/downloads 1130
Get Citation

Connect on Social Media

Connect on Social Media

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome

Katarzyna Bajszczak1, Maria Szarras-Czapnik2, Renata Walczak-Jędrzejowska3, Katarzyna Marchlewska3, Jolanta Slowikowska-Hilczer3
Pubmed: 32129466
Endokrynol Pol 2020;71(2):168-175.

Abstract

Introduction: Patients with disorders/differences of sex differentiation/development (DSD) are exposed to physical and mental suffering. The aim of the study was to assess the following: the mental health status and the risk of mental problems in adult DSD patients, their dependence on therapeutic procedures, and to identify groups of disorders that require particular psychological support.

Material and methods: The study involved 59 patients with DSD (gonadal dysgenesis — GD, androgen insensitivity syndrome — AIS, 5-alpha reductase deficiency, ovotestis), and with the Y chromosome in the karyotype, aged 16–65 years. All completed the General Health Questionnaire (GHQ-28) for the assessment of their mental health status. Raw results were converted into sten scores using norms for the Polish adult population to assess the risk of mental problems.

Results: A high risk of mental problems was identified in 24% of individuals (26% men, 21% women). Women, when compared with men, displayed a significantly higher mean level of anxiety and insomnia (7.3 vs. 4.6 scores) and somatic symptoms (7.4 vs. 5.5), and worse general mental health status (25.6 vs. 18.8). The most disturbing symptoms were observed among patients with complete and partial AIS, and complete GD (general mental health status: 39.5, 24.3, and 24.2, respectively), women lacking a vagina (27.2), and without an enlarged clitoris (27.5). Patients after genital surgery had significantly fewer somatic symptoms (5.4 vs. 7.8; p < 0.05) and better general mental health status in comparison to those without surgery (20.1 vs. 24.9; p < 0.05). No significant differences were observed between patients using hormone replacement therapy and those who were not.

Conclusions: The individuals with DSD and Y chromosome in the karyotype have increased risk of developing mental problems in comparison to the general Polish population. The risk factors seem to be as follows: female gender, the lack of a vagina, the lack of virilisation (no enlarged clitoris), and no genital operations performed. In some cases, sex hormone replacement therapy may be also the risk of mental problems. Particularly vulnerable groups are CAIS, PAIS, and CGD. The psychological support and an individual approach to particular needs of these patients is necessary. 

Article available in PDF format

View PDF Download PDF file

References

  1. Thyen U, Lanz K, Holterhus PM, et al. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006; 66(4): 195–203.
  2. Öçal G. Current concepts in disorders of sexual development. J Clin Res Pediatr Endocrinol. 2011; 3(3): 105–114.
  3. Nordenskjöld A, Holmdahl G, Frisén L, et al. Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2008; 93(2): 380–386.
  4. Johannsen TH, Ripa CPL, Mortensen EL, et al. Quality of life in 70 women with disorders of sex development. Eur J Endocrinol. 2006; 155(6): 877–885.
  5. Liu AX, Shi HY, Cai ZJ, et al. Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. Hum Reprod. 2014; 29(7): 1413–1419.
  6. Wisniewski AB, Migeon CJ. Gender identity/role differentiation in adolescents affected by syndromes of abnormal sex differentiation. Adolesc Med. 2002; 13(1): 119–28, vii.
  7. Bajszczak K, Słowikowska-Hilczer J. [Therapeutic problems in disorders of sex development]. Pediatr Endocrinol Diabetes Metab. 2016; 22(1): 26–31.
  8. Jürgensen M, Lux A, Wien SB, et al. Health-related quality of life in children with disorders of sex development (DSD). Europ J Pediatr. 2014; 173: 893–903.
  9. Özbaran B, Özen S, Gökşen D, et al. Psychiatric approaches for disorders of sex development: experience of a multidisciplinary team. J Clin Res Pediatr Endocrinol. 2013; 5(4): 229–235.
  10. Kleinemeier E, Jurgensen M, Lux A, et al. Psychological adjustment and sexual development of adolescents with disorders of sex development. J Adolesc Health. 2010; 47: 463–471.
  11. Patton GC, Viner R. Pubertal transitions in health. Lancet. 2007; 369(9567): 1130–1139.
  12. Money J, Ogunro C. Behavioral sexology: ten cases of genetic male intersexuality with impaired prenatal and pubertal androgenization. Arch Sex Behav. 1974; 3(3): 181–205.
  13. Vates TS, Fleming P, Leleszi JP, et al. Functional, social and psychosexual adjustment after vaginal reconstruction. J Urol. 1999; 162(1): 182–187.
  14. Bajszczak K, Szarras-Czapnik M, Slowikowska-Hilczer J. Sex development disorders — new nomenclature and guidelines in therapeutic treatment. Pol Sexol. 2014; 12(2): 74–80.
  15. Migeon CJ, Wisniewski AB, Gearhart JP, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics. 2002; 110(3): e31.
  16. Lee PA, Houk CP, Ahmed SF, et al. 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(2): e488–e500.
  17. Lee PA, Nordenström A, Houk CP, et al. Global DSD Update Consortium. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016; 85(3): 158–180.
  18. Goldberg D. Manual for users of GHQ-12 and GHQ-28 questionnaires. Polish adaptation. Prof. J. Nofer Institute of Occupational Medicine, Lodz 2001.
  19. de Vries ALC, Roehle R, Marshall L, et al. dsd-LIFE Group. Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries. Psychosom Med. 2019; 81(7): 629–640.
  20. Falhammar H, Claahsen-van der Grinten H, Reisch N, et al. dsd-LIFE group. Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. Endocr Connect. 2018; 7(3): 466–478.
  21. D'Alberton F, Assante MT, Foresti M, et al. Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development. J Sex Med. 2015; 12(6): 1440–1449.
  22. Wang C, Tian Q. The investigation of quality of life in 87 Chinese patients with disorders of sex development. Biomed Res Int. 2015; 2015: 342420.
  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. Ediati A, Juniarto AZ, Birnie E, et al. Social stigmatisation in late identified patients with disorders of sex development in Indonesia. BMJ Paediatr Open. 2017; 1(1): e000130.
  25. Barchmann H, Kinze W. Behaviour and achievement disorders in children with high intelligence. Acta Paedopsychiatr. 1990; 53(2): 168–172.
  26. Nordenström A, Röhle R, Thyen U, et al. dsd-LIFE group. Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development. Clin Endocrinol (Oxf). 2018; 88(3): 397–408.
  27. Słowikowska-Hilczer J, Hirschberg AL, Claahsen-van der Grinten H, et al. dsd-LIFE Group. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. Fertil Steril. 2017; 108(5): 822–831.
  28. Kreukels BPC, Cohen-Kettenis PT, Roehle R, et al. Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study. J Sex Marital Ther. 2019; 45(8): 688–705.
  29. Warne G, Grover S, Hutson J, et al. Murdoch Childrens Research Institute Sex Study Group. A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab. 2005; 18(6): 555–567.
  30. Amaral RC, Inacio M, Brito VN, et al. Quality of life of patients with 46,XX and 46,XY disorders of sex development. Clin Endocrinol (Oxf). 2015; 82(2): 159–164.
  31. Wisniewski AB, Mazur T. 46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5alpha-Reductase-2 Deficiency, or 17beta-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes. Int J Pediatr Endocrinol. 2009; 2009: 567430.
  32. Schützmann K, Brinkmann L, Schacht M, et al. Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development. Arch Sex Behav. 2009; 38(1): 16–33.
  33. Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, et al. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab. 2000; 85(8): 2664–2669.
  34. Minto CL, Liao KLM, Conway GS, et al. Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril. 2003; 80(1): 157–164.
  35. 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.
  36. Diamond M, Watson LA. Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. Child Adolesc Psychiatr Clin N Am. 2004; 13(3): 623–40, viii.
  37. Jürgensen M, Kleinemeier E, Lux A, et al. DSD Network Working Group, DSD Network Working Group. Psychosexual development in children with disorder of sex development (DSD)--results from the German Clinical Evaluation Study. J Pediatr Endocrinol Metab. 2010; 23(6): 565–578.
  38. Gupta DK, Shilpa S, Amini AC, et al. Congenital adrenal hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr Surg Int. 2006; 22(11): 905–909.
  39. Köhler B, Kleinemeier E, Lux A, et al. DSD Network Working Group. Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study. J Clin Endocrinol Metab. 2012; 97(2): 577–588.