LEADING ARTICLE

Determination of sex

Early assessment of ambiguous genitalia

A L Ogilvy-Stuart¹, C E Brain²

¹ Neonatal Unit, Rosie Hospital, Addenbrooke’s NHS Trust, Cambridge CB2 2SW, UK
² Dept of Paediatric Endocrinology, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK

Correspondence to:
Correspondence to:
Dr A L Ogilvy-Stuart
Neonatal Unit, Rosie Hospital, Addenbrooke’s NHS Trust, Cambridge CB2 2SW, UK; amanda.ogilvy-stuart{at}addenbrookes.nhs.uk

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A multidisciplinary problem

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Keywords: ambiguous genitalia; intersex

Abbreviations: AMH, anti-Müllerian hormone; CAH, congenital adrenal hyperplasia; DHEA, dehydroepiandrosterone; DHEAS, dehydroepiandrosterone sulphate; DHT, dihydrotestosterone; EUA, examination under anaesthesia; hCG, human chorionic gonadotrophin; StAR, steroidogenic acute regulatory protein

The first 150 words of the full text of this article appear below.

To discover that there is uncertainty about the sex of one’s newborn baby is devastating and often incomprehensible for most parents. It is paramount that clear explanations and investigations are commenced promptly, and that no attempt is made to guess the sex of the baby. Extreme sensitivity is required, and ideally the baby should be managed in a tertiary centre by a multidisciplinary team including a paediatric endocrinologist and a paediatric urologist. Early involvement of a clinical psychologist with experience in this field should be mandatory. Other professionals including geneticists and gynaecologists may also become involved. There must be access to specialist laboratory facilities and experienced radiologists. The incidence of genital ambiguity that results in the child’s sex being uncertain is 1 per 4500,¹ although some degree of male undervirilisation, or female virilisation may be present in as many as 2% of live births.²

Parents require reassurance . . . [Full text of this article]

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