Ambiguous Genitalia in the Newborn
Initial Assessment and Investigation

 

Reviewed by Clinical Practice Committee
August 2015

Clinical Guidelines

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Aetiology History & Examination Investigations Management Considerations References

Diagnosing a newborn with a disorder of sex development (DSD) or ambiguous genitalia should be treated with urgency and the neonatologist on call should be informed. DSD’s can be associated with hypoglycaemia and/or severe electrolyte disturbance. In addition, being told that their newborn has an unknown gender can cause significant distress for parents.

Definition

‘Disorders of Sex Development (DSDs)’ are defined as conditions involving development of chromosomal, gonadal or anatomical sex. Included are development of ambiguous genitalia, congenital disjunction of internal and external sex anatomy, incomplete development of sex anatomy, sex chromosome anomalies and disorders of gonadal development. (1)

Aetiology

Based on a consensus meeting on DSD, published in 2006, the following classification was devised:

46, XX DSD

46, XY DSD

Sex Chromosome DSD: these are also incorporated in the diagnostic categories above and include:

History taking and clinical examination

As with every examination, it is recommended that the examiner explains the basics of how the exam will proceed, encourages the parents to ask questions and makes sure to explain each procedure as it is performed. As one of the first questions asked of, and by parents is whether their baby ‘is a boy or a girl’? it is understandable that most families, prior to the diagnosis of a DSD, will not even have considered that gender could be ambiguous Therefore not only do they have the loss of their ’normal’ child to grieve for, they have the extra stress of what to say to family and friends. Being empathetic, sensitive and understanding to the family in this situation is essential. Importantly don’t make any comments that could be misinterpreted as indicating a gender until all investigations are completed. Keep any initial discussions short and simple. As you exam their child you can provide some basic education about the child’s genital anatomy by talking about the names for the various structures and explaining any unfamiliar medical terminology. This can be furthered by speaking gently to the baby using the name (if one has been given) or by using gender-neutral language (avoiding the terms pronouns such as ‘he’ or ‘she’).

When the examination is complete, parents should dress and hold the baby and the examiner should sit down with the parents, explain the findings and discuss the ongoing plan and follow up. Note more detailed and repeated discussions with the family will be made by paediatric endocrinologists over the following week as results of further tests become known. It is important to stress that no decisions can be made about gender assignment until after the results of the blood test and scans are reviewed and after involving other teams, such as Endocrinology and Genetics. (2)

Relevant questions to ask the family include:

Useful examination findings:

Investigations

Management

Considerations

Gender Assignment

References

1 Hughes, I. A., Houk, C., Ahmed, S. F., & Lee, P. A. (2006). Consensus statement on management of intersex disorders. Archives of Disease in Childhood, 91(7), 554–63.
2 Consortium on the Management of Disorders of Sex Development (2006). Clinical Guidelines for the Management of Disorders of Sex Development in Childhood. Intersex Society of North America. www.dsdguidelines.com


Further Information