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Three out of four: a case discussion on ambiguous genitalia.

Eur J Endocrinol

December 2008

Department of Paediatrics, Hieronymus Bosch Medical Centre, Location GZG, PO Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands.

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in many patients affected, no definitive cause for the disorder can be found.

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