Best Practice & Research Clinical Endocrinology & Metabolism
Volume 24, Issue 2 , Pages 335-354 , April 2010

Holistic management of DSD

  • Caroline E. Brain, MB, BS, MD, MRCP, FRCPCH (Consultant Paediatric Endocrinologist)

      Affiliations

    • Department of Endocrinology, Great Ormond Street Hospital NHS Trust, London WC1N 3JN, UK
    • Tel.: +44 20 7405 9200x5813.
    • ,
  • Sarah M. Creighton, MD FRCOG (Consultant Gynaecologist)

      Affiliations

    • Department of Women's Health, University College Hospital, London NW1 2PG, UK
    • Tel.: +44 8451555000x5278.
    • ,
  • Imran Mushtaq, MB, ChB, FRCS (Glasg.), MD, FRCS (Paed.) (Consultant Paediatric Urologist)

      Affiliations

    • Department of Urology, Great Ormond Street Hospital NHS Trust, London WC1N 3JN, UK
    • Tel.: +44 20 7405 9200x5918.
    • ,
  • Polly A. Carmichael, BSc, PhD, DClinPsy (Consultant Clinical Psychologist)

      Affiliations

    • Department of Psychology, Great Ormond Street Hospital NHS Trust, London WC1N 3JN, UK
    • Tel.: +44 20 7405 9200x5563.
    • ,
  • Angela Barnicoat, MD, FRCP (Consultant Clinical Geneticist)

      Affiliations

    • Department of Clinical Genetics, Great Ormond Street Hospital NHS Trust, London WC1N 3JN, UK
    • Tel.: +44 20 7405 9200x2647.
    • ,
  • John W. Honour, PhD, BSc, FRCPath (Consultant Clinical Scientist)

      Affiliations

    • Clinical Biochemistry, University College London Hospital, 60 Whitfield Street, London W1T 4EU, UK
    • Tel.: +44 84511555000x2956.
    • ,
  • Victor Larcher, BA, MA, MB, BChir, FRCP, FRCPCH (Consultant in General Paediatrics and Clinical Ethics)

      Affiliations

    • Department of Adolescent Medicine, Great Ormond Street Hospital NHS Trust, London WC1N 3JN, UK
    • Tel.: +44 20 7405 9200x0158/8541/6285; Fax +44 20 7813 8588.
    • ,
  • John C. Achermann, MB, BChir, MA, MD, FRCP, FRCPCH (Wellcome Trust Senior Research Fellow in Clinical Science)

      Affiliations

    • Developmental Endocrinology Research Group, Clinical & Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 20 7905 2887; Fax: +44 20 7404 6191.

References 

  1. Hughes IA, Houk C, Ahmed SF, et al. LWPES Consensus Group; ESPE Consensus Group Consensus statement on management of intersex disorders. Archives of Disease in Childhood. 2006;91:554–563
  2. Houk CP, Hughes IA, Ahmed SF, et al. Writing Committee for the International Intersex Consensus Conference Participants Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics. 2006;118:753–757
  3. Achermann JC, Hughes IA. Disorders of sex development. In:  Kronenberg HM,  Melmed S,  Polonsky KS, et al. editor. Williams textbook of endocrinology. 11th edn. Philadelphia: Elsevier; 1990;p. 783–848
  4. Dreger AD, Chase C, Sousa A, et al. Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale. Journal of Pediatric Endocrinology & Metabolism. 2005;18:729–733
  5. Vilain E, Achermann JC, Eugster EA, et al. We used to call them hermaphrodites. Genetics in Medicine. 2007;9:65–66
  6. Wright CF, Chitty LS. Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ. 2009;339:b2451
  7. Hindmarsh PC. Management of the child with congenital adrenal hyperplasia. Best Practice & Research. Clinical Endocrinology & Metabolism. 2009;23:193–208
  8. Warne GL, Raza J. Disorders of sex development (DSDs), their presentation and management in different cultures. Reviews in Endocrine & Metabolic Disorders. 2008;9:227–236
  9. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Archives of Disease in Childhood. 2004;89:401–407
  10. Warne GL. Long-term outcome of disorders of sex development. Sexual Development. 2008;2:268–277
  11. Looijenga LH, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development (DSD). Best Practice & Research. Clinical Endocrinology & Metabolism. 2007;21:480–495
  12. Ismail-Pratt I, Bikoo M, Liao LM, et al. Normalisation of vaginal length by dilator treatment alone in Complete Androgen Insensitivity Syndrome (CAIS) and Rokitansky Syndrome. Human Reproduction. 2007;22:2020–2024
  13. Liao LM, Green H, Creighton SM, et al. Service users' experiences of obtaining and giving information about disorders of sex development. BJOG. 2009;[Oct 19 epub]
  14. Rey RA, Belville C, Nihoul-Fékété C, et al. Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement. The Journal of Clinical Endocrinology and Metabolism. 1999;84:627–631
  15. Bergadá I, Milani C, Bedecarrás P, et al. Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the first month of life. The Journal of Clinical Endocrinology and Metabolism. 2006;91:4092–4098
  16. Forest MG, de Peretti E, Bertrand J. Testicular and adrenal androgens and their binding to plasma proteins in the perinatal period: developmental patterns of plasma testosterone, 4-androstenedione, dehydroepiandrosterone and its sulfate in premature and small for date infants as compared with that of full-term infants. Journal of Steroid Biochemistry. 1980;12:25–36
  17. Wong T, Shackleton CH, Covey TR, et al. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clinical Chemistry. 1992;38:1830–1837
  18. Guo T, Taylor RL, Singh RJ, et al. Simultaneous determination of 12 steroids by isotope dilution liquid chromatography-photospray ionization tandem mass spectrometry. Clinica Chimica Acta. 2006;372:76–82
  19. Kushnir MM, Rockwood AL, Roberts WL, et al. Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Clinical Chemistry. 2006;52:1559–1567
  20. Rauh M. Steroid measurement with LC-MS/MS in pediatric endocrinology. Molecular and Cellular Endocrinology. 2009;301:272–281
  21. Cragun DL, Trumpy SK, Shackleton CH, et al. Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. American Journal of Medical Genetics. Part A. 2004;129A:1–7
  22. Vesper HW, Bhasin S, Wang C, et al. Interlaboratory comparison study of serum total testosterone measurements performed by mass spectrometry methods. Steroids. 2009;74:498–503
  23. Taylor PJ. Matrix effects: the Achilles heel of quantitative high-performance liquid chromatography-electrospray-tandem mass spectrometry. Clinical Biochemistry. 2005;38:328–334
  24. Honour JW. Urinary steroid profile analysis. Clinica Chimica Acta. 2001;313:45–50
  25. Caulfield MP, Lynn T, Gottschalk ME, et al. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. The Journal of Clinical Endocrinology and Metabolism. 2002;87:3682–3690
  26. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Practice & Research. Clinical Endocrinology & Metabolism. 2009;23:181–192
  27. Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) and disorders of testis development. Sexual Development. 2008;2:200–209
  28. Pinsky L, Erickson RP, Schimke RN. Genetic disorders of human sexual development. Oxford: Oxford University Press; 1999;
  29. Available from: http://www.ukgtn.nhs.uk/gtn/Home.
  30. Larcher V. Consent, competence, and confidentiality. BMJ. 2005;330:353–356
  31. Inwald D. The best interests test at the end of life on PICU: a plea for a family centred approach. Archives of Disease in Childhood. 2008;93:248–250
  32. Wiesseman C, Ude-Koeller S, Sinnecker GH, et al. Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents. European Journal of Pediatrics. 2009;[Oct 20 Epub]
  33. British Medical Association . Consent rights and choices in heath care for children and young people. London: BMJ Books; 2001;
  34. Alderson P, Montgomery J. Health care choices: making decisions with children. London Institute for Public Policy Research; 1996;
  35. Available from: http://www.ethics-network.org.uk/ethicsdecisionmakingtools.
  36. Available from: http://www.gmc-uk.org/guidance/ethical_guidance/confidentiality.asp.
  37. Department of Health . You're Welcome quality criteria: making health services young people friendly. Available from: http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_0735862007;
  38. Department of Health . Transition: moving on well – good practice guide. Available from: http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_0835922008;
  39. Minto CL, Crouch NS, Conway GS, et al. XY females: revisting the diagnosis. BJOG. 2005;112:1407–1410
  40. Pasterski V, Prentice P, Hughes I. Consequences of the Chicago Consensus on Disorders of Sex Development (DSD): current practices in Europe. Archives of Disease in Childhood. 2009;[Sep 22 Epub]

PII: S1521-690X(10)00025-4

doi: 10.1016/j.beem.2010.01.006

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 24, Issue 2 , Pages 335-354 , April 2010

Article Tools

* Image Usage & Resolution