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Management of differences and disorders of sex development in the newborn 

Management of differences and disorders of sex development in the newborn
Management of differences and disorders of sex development in the newborn

S. Faisal Ahmed

, Paula Midgley

, and Martina Rodie

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date: 20 May 2022

The birth of a new baby is one of the greatest wonders of nature. 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, which is 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 and ethical issues. However, the recognition of genital ambiguity may depend on the expertise of the observer. The prevalence of genital anomalies at birth may be as high as 1 in 300 births (1), the prevalence of complex anomalies that may lead to true genital ambiguity may be as low as 1 in 5000 births (2). Rather than treating every affected child as a medical emergency, it is paramount that such a child is first assessed by an expert with adequate knowledge about the range of variation in the physical appearance of genitalia, the underlying pathophysiology of disorders of sex development, and the strengths and weaknesses of the tests that can be performed in early infancy. This expert should be able to ensure that the parents’ needs for information are comprehensively addressed, while appropriate investigations are performed in a timely fashion. This expert also needs to have immediate access to the multidisciplinary team that is essential for the management of such a child. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.

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