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Horm Metab Res 2015; 47(05): 351-356
DOI: 10.1055/s-0034-1398562
Review
© Georg Thieme Verlag KG Stuttgart · New York

Psychosocial Factors in Disorders of Sex Development in a Long-Term Perspective: What Clinical Opportunities are there to Intervene?

A. Nordenström
1   Karolinska Institutet, Department of Women’s and Children’s Health, Pediatric Endocrinology Q2:04, Karolinska University Hospital, Stockholm, Sweden
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Publication History

received 02 October 2014

accepted 18 December 2014

Publication Date:
04 March 2015 (online)

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Abstract

Disorders or differences in sex development (DSD) comprise a wide spectrum of severity. The overall goal for the treatment and care is good quality of life but current knowledge concerning the psychosocial situation and health related quality of life for patients with different forms of DSD is limited. Follow-up studies have often focused on surgical results, sexual function, and psychosexual outcome and indicated unsatisfactory results in many cases. Epidemiological studies show less than optimal psychosocial situation for some of the diagnostic groups. Studies indicate that access to psychological support and understandable information is important for the outcome. Hormonal and surgical treatments are improving and new and better ways to strengthen the patient’s ability to cope with the situation are needed. In a well-functioning multidisciplinary team, the patient’s and family’s needs should be identified. Tools to accomplish this can be developed. The care and our knowledge about disorders of sex development have developed considerably during the last decade. These are small patient groups with rare conditions that require specialized, highly qualified care in all aspects: medical, surgical, and psychological. It is important that changes in treatment practice are continuously evaluated.

Key words

DSD - quality of life - congenital adrenal hyperplasia
 

  • References

  • 1 Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES Consensus Group . ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563
    PubMedGoogle Scholar
  • 2 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. 03) S752-S759
    CrossrefPubMedGoogle Scholar
  • 3 Köhler B, Kleinemeier E, Lux A, Hiort O, Grüters A, Thyen U. 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: 577-588
    CrossrefPubMedGoogle Scholar
  • 4 Nordenström A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Nordenskjöld 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 2010; 95: 3633-3640
    CrossrefPubMedGoogle Scholar
  • 5 Frisén L, Nordenström A, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Möller A, Nordenskjöld A. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab 2009; 94: 3432-3439
    CrossrefPubMedGoogle Scholar
  • 6 Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, Nordenström A. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol 2013; 1: 35-42 www.thelancet.com/diabetes-endocrinology
    CrossrefPubMedGoogle Scholar
  • 7 Berenbaum SA, Meyer-Bahlburg HF Gender development and sexuality in disorders of sex development. Horm Metab Res 2015; 47
    PubMed
  • 8 Nordenström A. Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects. Curr Opin Pediatr 2011; 23: 436-442
    CrossrefPubMedGoogle Scholar
  • 9 Berenbaum SA, Korman Bryk K, Duck SC, Resnick SM. Psychological adjustment in children and adults with congenital adrenal hyperplasia. J Pediatr 2004; 144: 741-746
    PubMedGoogle Scholar
  • 10 Jääskeläinen J, Tiitinen A, Voutilainen R. Sexual function and fertility in adult females and males with congenital adrenal hyperplasia. Horm Res 2001; 56: 73-80
    PubMedGoogle Scholar
  • 11 Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F, Loeffler M, Ventz M, Hinz A, Beuschlein F, Allolio B, Reincke M, Quinkler M. Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. Clin Endocrinol (Oxf) 2011; 74: 166-173
    CrossrefPubMedGoogle Scholar
  • 12 Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ. United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) . Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 2010; 95: 5110-5121
    CrossrefPubMedGoogle Scholar
  • 13 Nermoen I, Husebye ES, Svartberg J, Løvås K. Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway. Eur J Endocrinol 2010; 163: 453-459
    CrossrefPubMedGoogle Scholar
  • 14 Amaral RC, Inacio MI, Brito VN, Bachega TAAS, Domenice S, Arnhold IJP, Madureira G, Gomes L, Costa EMF, Mendonca BB. Quality of life of patients with 46,XX and 46,XY disorders of sex development. Clin Endocrinol 2014; DOI: 10.1111/cen.12561 . (published on line before print)
    PubMedGoogle Scholar
  • 15 Kleinemeier E, Jürgensen M, Lux A, Widenka PM, Thyen U. Disorders of Sex Development Network Working Group. Psychological adjustment and sexual development of adolescents with disorders of sex development. J Adolesc Health 2010; 47: 463-471
    CrossrefPubMedGoogle Scholar
  • 16 Johannsen TH, Ripa CP, Mortensen EL, Main KM. Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 2006; 155: 877-885
    CrossrefPubMedGoogle Scholar
  • 17 Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, Thyen U. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 2014; 173: 893-903
    CrossrefPubMedGoogle Scholar
  • 18 Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjöld A, Frisén L, Nordenström A. Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden. J Clin Endocrinol Metab 2014; 99: 1425-1432
    CrossrefPubMedGoogle Scholar
  • 19 Falhammar H, Butwicka A, Landén M, Lichtenstein P, Nordenskjöld A, Nordenström A, Frisén L. Increased psychiatric morbidity in men with congenital adrenalhyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014; 99: E554-E560
    PubMedGoogle Scholar
  • 20 Liao LM, Tacconelli E, Wood D, Conway G, Creighton SM. Adolescent girls with disorders of sex development: A needs analysis of transitional care. J Pediatr Urol 2010; 6: 609-613
    CrossrefPubMedGoogle Scholar
  • 21 Pasterski V, Mastroyannopoulou K, Wright D, Zucker KJ, Hughes IA. Predictors of Posttraumatic Stress in Parents of Children Diagnosed with a Disorder of Sex Development. Arch Sex Behav 2014; 43: 369-375
    CrossrefPubMedGoogle Scholar
  • 22 Crissmann HP, Warner L, Gardner M, Carr M, Schast A, Quittner AL, Kogan B, Sandberg DE. Children with disorders of sex development: a qualitative study of early parental experience. Int J Pediatr Endocrinol 2011; 2011: 10
    CrossrefPubMedGoogle Scholar
  • 23 Duguid A, Morrison S, Robertson A, Chalmers J, Youngson G, Ahmed SF. Scottish Genital Anomaly Network . The psychological impact of genital anomalies on the parents of affected children. Acta Paediatr 2007; 96: 348-352
    CrossrefPubMedGoogle Scholar
  • 24 Hullmann SE, Fedele DA, Wolfe-Christensen C, Mullins LL, Wisniewski AB. Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development. Int J Pediatr Endocrinol 2011; 2011: 16
    CrossrefPubMedGoogle Scholar
  • 25 Austin JL, Tamaris-Mattis A, Mazur T, Henwood MJ, Rossi WC. Disorders of sex development – when and how to tell the patient. Pediatric Endocrinology Review 2011; 8: 213-217
    PubMedGoogle Scholar
  • 26 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. Changes Over Time in Sex Assignment for Disorders of Sex Development. Pediatrics 2014; 134: 710-715
    CrossrefPubMedGoogle Scholar
  • 27 Nordenström A, Thyen U. Improving the communication of healthcare professionals with affected children and adolescents. Endocr Dev 2014; 27: 113-127
    PubMedGoogle Scholar
  • 28 Sandberg DE, Gardner M, Cohen-Kettenis PT. Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 2012; 30: 443-452
    Article in Thieme ConnectPubMedGoogle Scholar