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Abnormal sexual development invariably manifests at birth, usually in the form of ambiguity of the external genitalia. It is estimated that 1 in 4500 live births may have a genital abnormality which is so abnormal that a decision about sex may be impossible at birth. In such cases the paediatrician will be under great pressure to respond to parental anxiety. However, it is important to undertake appropriate investigations in order to try to reach a diagnosis, and also to make, in concert with relevant professionals and the family, an early decision about the sex of rearing. Although it is beneficial that registration of the birth can be delayed in such circumstances, in some countries such as the United Kingdom, most parents will probably find it unacceptable if the sex of rearing of the newborn child was delayed for more than a fortnight. Management of ambiguous genitalia in the newborn is, therefore, a medical emergency requiring skilled handling and a sensitive approach with a reasonable knowledge about possible underlying pathology. |
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