Global Sex

Best Practice & Research Clinical Endocrinology & Metabolism 24 (2010) 197–218

Contents lists available at ScienceDirect

Best Practice & Research Clinical Endocrinology & Metabolism
journalhomepage: www.elsevier.com/locate/beem

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Investigation and initial management of ambiguous genitalia
S. Faisal Ahmed, Professor, MD, FRCPCH *, Martina Rodie, BSc, MBChB, MRCPCH
Department ofChild Health, Royal Hospital For Sick Children, University of Glasgow, Yorkhill, Glasgow G3 8SJ, United Kingdom

Keywords: DSD evaluation intersex

Infants rarely present with truly ambiguousgenitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmeddisorders of sex development. The paediatric endocrinologist who is a vital and often the central member of this clinical team not only needs to lead the clinical evaluation of the infant systematically butalso needs to be sensitive to the needs of the infant, the parents and the rest of the team. A thorough knowledge of the underlying pathophysiology and the strengths and weaknesses of the investigativetools that are available for reaching a diagnosis is crucial. Ó 2009 Elsevier Ltd. All rights reserved.

The birth of a new baby is one of the greatest wonders of nature and one of the mostexciting events known to mankind. The first question that is usually posed by the new parent is ‘‘is it a boy or a girl?’’; without this information the parents cannot even formulate the second question whichis usually ‘‘is he/she alright?’’. It is no wonder that the birth of a child with an abnormality of genital development, where the sex of rearing is uncertain at birth, presents difficult clinical andethical issues. However, the extent of genital ambiguity may depend on the expertise of the observer; whilst the prevalence of genital anomalies at birth may be as high as 1 in 300 births1, the...