Consensus statement on management of intersex disorders

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Abstract

The birth of an intersex child prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques, understanding psychosocial issues and in recognizing and accepting the place of patient advocacy. The Lawson Wilkins Paediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) considered it timely to review the management of intersex disorders from a broad perspective, to review data on longer term outcome and to formulate proposals for future studies. The methodology comprised establishing a number of working groups whose membership was drawn from 50 international experts in the field. The groups prepared prior written responses to a defined set of questions resulting from an evidence based review of the literature. At a subsequent gathering of participants, a framework for a consensus document was agreed. This paper constitutes its final form.

Section snippets

Nomenclature and definitions

Advances in identification of molecular genetic causes of abnormal sex with heightened awareness of ethical issues and patient advocacy concerns necessitate a re-examination of nomenclature [1]. Terms such as intersex, pseudohermaphroditism, hermaphroditism, sex reversal, and gender-based diagnostic labels are particularly controversial. These terms are perceived as potentially pejorative by patients [2], and can be confusing to practitioners and parents alike. The term Disorders of Sex

General concepts of care

Optimal clinical management of individuals with DSD [21] should comprise the following: (1) gender assignment must be avoided prior to expert evaluation in newborns; (2) evaluation and long-term management must be performed at a centre with an experienced multidisciplinary team; (3) all individuals should receive a gender assignment; (4) open communication with patients and families is essential and participation in decision-making is encouraged; (5) patient and family concerns should be

Outcome in DSD

As a general statement, information across a range of assessments is insufficient in DSD. The following is based on those disorders where some evidence base is available. They include CAH, CAIS and PAIS, disorders of androgen biosynthesis, gonadal dysgenesis syndromes (complete and partial) and micropenis. Long term outcome in DSD should include the following: external and internal genital phenotype, physical health including fertility, sexual function, social and psychosexual adjustment,

Future studies

Establishing a precise diagnosis in DSD is just as important as in other chronic medical conditions with life-long consequences. Considerable progress has been achieved with molecular studies as illustrated in Table 5 which summarises the genes known to be involved in DSD. Use of tissue-specific animal knock out models, comparative genomic hybridization and microarray screens of the mouse urogenital ridge will provide benefits in identifying new genes causing DSD [89]. It is essential that the

Acknowledgements

The LWPES and ESPE gratefully acknowledge unrestricted educational grant support for the consensus meeting from Pfizer Endocrine Care, Novo Nordisk, Ferring and Organon. The work of Alan Rogol, Joanne Rogol, Pauline Bertrand and Pam Stockham in organizing the meeting is gratefully appreciated.

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    Consensus Group: The following participants contributed to the production of the Consensus document: John Achermann (London, UK), Faisal Ahmed (Glasgow, UK), Laurence Baskin (San Francisco, USA), Sheri Berenbaum (University Park, USA), Sylvano Bertelloni (Pisa, Italy), John Brock (Nashville, USA), Polly Carmichael (London, UK), Cheryl Chase (Rohnert Park, USA), Peggy Cohen-Kettenis (Amsterdam, Netherlands), Felix Conte (San Francisco, USA), Patricia Donohoue (Iowa City, USA), Chris Driver (Aberdeen, UK), Stenvert Drop (Rotterdam, Netherlands), Erica Eugster (Indianapolis, USA), Kenji Fujieda (Asahikawa, Japan), Jay Giedd (Bethesda, USA), Richard Green (London, UK), Melvin Grumbach (San Francisco, USA), Vincent Harley (Victoria, Australia), Melissa Hines (London, UK), Olaf Hiort (Lübeck, Germany), Ieuan Hughes (Cambridge, UK), Peter Lee (Hershey, USA), Leendert Looijenga (Rotterdam, Netherlands), Laurence McCullough (Houston, USA), Bernadice Mendoca (Sao Paulo, Brazil), Heino Meyer-Bahlburg (New York, USA), Claude Migeon (Baltimore, USA), Yves Morel (Lyon, France), Pierre Mouriquand (Lyon, France), Anna Nordenström (Stockholm, Sweden), Phillip Ransley (London, UK), Robert Rapaport (New York, USA), William Reiner (Oklahoma City, USA), Hertha Richter-Appelt (Hamburg, Germany), Richard Rink (Indianapolis, USA), Emilie Rissman (Charlottesville, USA), Paul Saenger (New York, USA), David Sandberg (Buffalo, USA), Justine Schober (Erie, USA), Norman Spack (Boston, USA), Barbara Thomas (Rottenburg am Neckar, Germany), Ute Thyen (Lübeck, Germany), Eric Vilain (Los Angeles, USA), Garry Warne (Melbourne, Australia), Amy Wisniewski (Des Moines, USA), Jean Wilson (Dallas, USA), Christopher Woodhouse (London, UK), Kenneth Zucker (Toronto, Canada).

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