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Horm Metab Res 2015; 47(05): 394-400
DOI: 10.1055/s-0035-1545274
Commentary
© Georg Thieme Verlag KG Stuttgart · New York

Consequences of the Chicago DSD Consensus: A Personal Perspective

I. A. Hughes
1   University of Cambridge, Cambridge, UK
› Author Affiliations
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Publication History

received 25 November 2014

accepted 15 January 2015

Publication Date:
06 March 2015 (online)

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Abstract

A decade has passed since the Chicago Consensus meeting was convened to consider how to improve the management of individuals and their families with an intersex disorder. It is apposite to review, from an individual perspective, what impact the Consensus has had on clinical practice and research. Emphasis is placed on nomenclature and DSD classification, multidisciplinary team working, striving to reach a causative diagnosis for DSD, the value of uniformity of collective case registries for rare conditions, and the potential for meaningful clinical outcome studies and basic scientific research. The impact of the Consensus can be gauged objectively by an exponential increase in DSD-related publications in the medical and scientific literature and organisation of numerous national and international meetings. Psychologists and social scientists have embraced the subject area and enhanced the holistic approach to management of DSD. Much needs to be done to improve diagnosis, and to identify measures to predict outcome that can be used both in sex assignment decision-making and to improve the quality of life for young adults with DSD. Though challenging, these goals are attainable through specialist multidisciplinary clinics working at local level and the DSD community at large, collaborating at national and international levels to tap the data resources now being developed.

Key words

DSD - nomenclature - diagnosis - multidiscipline
 

  • References

  • 1 Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563
    PubMedGoogle Scholar
  • 2 Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics 2006; 118: e488-e500
    CrossrefPubMedGoogle Scholar
  • 3 Federman DD. Abnormal sexual development. Philadelphia: WB Saunders; 1967: 1-206
    Google Scholar
  • 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: 618-623
    CrossrefPubMedGoogle Scholar
  • 5 Davies JH, Knight EJ, Savage A, Brown J, Malone PS. Evaluation of terminology used to describe disorders of sex development. J Pediatr Urol 7: 412-415
    PubMedGoogle Scholar
  • 6 Hughes IA. A quiet revolution. Best Pract Res Clin Endocrinol Metab 2010; 24: 159-162
    CrossrefPubMedGoogle Scholar
  • 7 Reis E. Divergence or disorder? The politics of naming intersex. Pers Biol Med 2007; 50: 535-543
    PubMedGoogle Scholar
  • 8 Diamond M. Clinical implications of the organizational and activational effects of hormones. Horm Behav 2009; 55: 621-632
    CrossrefPubMedGoogle Scholar
  • 9 Guntram L. Differently normal and normally different: negotiations of female embodiment in women’s accounts of atypical sex development. Soc Sci Med 2013; 98: 232-238
    CrossrefPubMedGoogle Scholar
  • 10 Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab 2010; 24: 335-354
    CrossrefPubMedGoogle Scholar
  • 11 Schonbucher V, Schweizer K, Rustige L, Schtzmann K, Brunner F, Richter-Appelt H. Sexual quality of life of individuals with 46,XY disorders of sex development. J Sex Med 2012; 9: 3154-3170
    CrossrefPubMedGoogle Scholar
  • 12 Ozbaran B, Ozen S, Goksen D, Korkmaz O, Onay H, Ozkinay F, Cogulu O, Erermis S, Kose S, Avanoglu A, Ulman I, Darcan S. Psychiatric approaches for disroders of sex development: experience of a multidisciplinary team. J Clin Res Pediatr Endocrinol 2013; 5: 229-235
    CrossrefPubMedGoogle Scholar
  • 13 Jurgensen 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
  • 14 Cassia Amaral R, Inacio M, Brito VN, Bachega TA, Oliveira Jr AA, Domenice S, Denes FT, Sircili MH, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB. Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre. Clin Endocrinol 2015; 82: 274-279
    CrossrefPubMedGoogle Scholar
  • 15 Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000; 85: 120-124
    CrossrefPubMedGoogle Scholar
  • 16 Lek N, Miles H, Bunch T, Pilford-Wilkie V, Tadokoro-Cuccaro R, Davies J, Ong KK, Hughes IA. Low frequency of androgen receptor gene mutations in 46 XY DSD and fetal growth restriction. Arch Dis Child 2014; 99: 358-361
    CrossrefPubMedGoogle Scholar
  • 17 Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Delot E, Vilain E. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 2015; 100: E333-E344
    CrossrefPubMedGoogle Scholar
  • 18 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, Mazan A, Mazen I, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintob N. Changes over time in sex assignment for disorders of sex development. Pediatrics 2014; 134: e710-e715
    CrossrefPubMedGoogle Scholar
  • 19 Creighton S, Chernausek SD, Romao R, Ransley P, Salle JP. Timing and nature of reconstructive surgery for disorders of sex development-introduction. J Pediatr Urol 2012; 8: 602-610
    CrossrefPubMedGoogle Scholar
  • 20 Diamond M, Garland J. Evidence regarding cosmetic and medically unnecessary surgery on infants. J Pediatr Urol 2014; 10: 2-7
    CrossrefPubMedGoogle Scholar
  • 21 Mouriquand P, Caldamone A, Malone P, Frank JD, Hoebeke P. The ESPU/SPU standpoint on the surgical management of disorders of sex development (DSD). J Pediatr Urol 2014; 10: 8-10
    CrossrefPubMedGoogle Scholar
  • 22 Tamar-Mattis JD. Patient advocate response to DSD surgery debate. J Pediatr Urol 2014; 10: 788-789
    CrossrefPubMedGoogle Scholar
  • 23 Liao L-M, Audi L, Magritte E, Meyer-Bahlburg HFL, Quigley CA. Determinant factors of gender identity: a commentary. J Pediatr Urol 2012; 8: 597-601
    CrossrefPubMedGoogle Scholar
  • 24 Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM. Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early gonadectomy?. Int J Ped Endocrinol 2013; 2013: 15
    PubMedGoogle Scholar
  • 25 Pasterski V, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini C, Spencer D, Neufeld S, Hines M. Increased cross-gender identification independent of gender role behvior in girls with congenital adrenal hyperplasia: results from a standardized assessment of 4- to11-year-old children. Arch Sex Behav 2014; Sept 20 [Epub ahead of print]
    PubMedGoogle Scholar
  • 26 van der Zwan YG, Biermann K, Wolffenbuttel KP, Cools M, Looijenga LH. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2014 Sep 17 [Epub ahead of print]
    PubMedGoogle Scholar
  • 27 Warne GL, Raza J. Disorders of sex development (DSDs), their presentation and management in different cultures. Rev Endocr Metab Disord 2008; 9: 227-236
    CrossrefPubMedGoogle Scholar
  • 28 Raza J, Mazen I. Achieving diagnostic certainty in resource-limited settings. Endocr Dev 2014; 27: 257-267
    PubMedGoogle Scholar
  • 29 Pasterski V, Mastrotannopoulou 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
  • 30 Baratz AB, Sharp MK, Sandberg DE. Disorders of sex development peer support. Endocr Dev 2014; 27: 99-112
    PubMedGoogle Scholar
  • 31 Nordenstrom A, Thyen U. Improving the communication of healthcare professionals with affected children and adolescents. Endocr Dev 2014; 27: 113-127
    PubMedGoogle Scholar
  • 32 Tadokoro-Cuccaro R, Hughes IA. Androgen insensitivity syndrome. Curr Opin Endocrinol Diabetes Obes 2014; 21: 499-503
    CrossrefPubMedGoogle Scholar
  • 33 Hiort O, Birnbaum W, Marshall L, Wunsch L, Werner R, Schroder T, Dohnert U, Holterhus PM. Management of disorders of sex development. Nat Rev Endocrinol 2014; 10: 520-529
    CrossrefPubMedGoogle Scholar