Holistic management of DSD

Brain, Caroline E.; Creighton, Sarah M.; Mushtaq, Imran; Carmichael, Polly A.; Barnicoat, Angela; Honour, John W.; Larcher, Victor; Achermann, John C.

doi:10.1016/j.beem.2010.01.006

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

Disorder of sex development (DSD) presents a unique challenge, both diagnostically and in terms of acute and longer-term management. These are relatively rare conditions usually requiring a multidisciplinary approach from the outset and the involvement of a tertiary centre for assessment and management recommendations. This article describes the structure of the multidisciplinary team (MDT) at our centre, with contributions from key members of the team regarding their individual roles. The focus is on the newborn referred for assessment of ambiguous genitalia, rather than on individuals who present in the adolescent period or at other times, although the same MDT involvement is likely to be required. The approach to the initial assessment and management is discussed and the subsequent diagnosis and follow-up presented, with emphasis on the importance of careful transition and long-term support.

Keywords: disorder of sex development (DSD), intersex, multidisciplinary team, congenital adrenal hyperplasia, gonadal dysgenesis, ambiguous genitalia