What is it about?

Describe a case of ambiguous gentilia at birth due to a rare enzymatic deficiency ( aromatase deficiency)

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Why is it important?

To guide the clinicians to have a high index of suspicion when challenged with ambiguous genitalia with unclear etiology. Maternal virilization symptoms during pregnancy ( resolving after birth) are the key to make this diagnosis ( Aromatase deficiency)


This is a very interesting case that represents a rare diagnosis. This case highlights the importance of detailed maternal history when evaluating ambiguous genitalia.

Dr Mahdi Alsaleem
Children's Mercy Hospitals and Clinics

Read the Original

This page is a summary of: Aromatase deficiency: a rare cause of maternal virilisation and ambiguous genitalia in neonates, BMJ Case Reports, June 2019, BMJ,
DOI: 10.1136/bcr-2019-231267.
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