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Three out of four: a case discussion on ambiguous genitalia

¹ Department of Paediatrics, Hieronymus Bosch Medical Centre, Location GZG, PO Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands² Division of Pediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany

(Correspondence should be addressed to E G A H van Mil; Email: e.g.vanmil{at}jbz.nl)

This paper was presented at the 5th Ferring International Paediatric Endocrinology Symposium, Baveno, Italy (2008). Ferring Pharmaceuticals has supported the publication of these proceedings.

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. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, decision making and also therapeutic interventions, a highly specialised team of physicians of different subspecialties and experts for psychosocial care is needed to counsel parents and patients accordingly. This article presents a case with 46,XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refused further genetic testing. The outcome of subsequent pregnancies confirmed the working diagnosis of an autosomal form of 46,XX DSD. However, the family still refused prenatal testing and treatment on religious grounds. The case discussion further illuminates the possible influence of religion in prenatal testing and concludes with the approach to the parents for comprehensive counselling in decision making for their child.