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Three out of four: A case discussion on ambiguous genitalia

E Van Mil, Paediatrics, Jheronimus Bosch Medical Centre, 's-Hertogenbosch, 5200 ME, Netherlands
O Hiort, Padiatrische Endokrinologie und Diabetologie, Universitatsklinikum Schleswig-Holstein, Campus Lubeck, Lubeck, Germany

Correspondence: Edgar Van Mil, Email: e.g.vanmil{at}jbz.nl

Abstract

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 most 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, for decision making and also for therapeutic interventions, a highly specialized team of physicians of different subspecialties and of experts for psychosocial care is needed to counsel parents and patients accordingly.

In this article a case is presented with 46 XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refuses further genetical testing. The outcome of subsequent pregnancies confirms the working diagnosis of an autosomal form of 46XX DSD, however the family still refuses prenatal testing and treatment on religious arguments. The case discussion further illuminates the possible influence of religion in prenatal testing and ends with the approach to the parents for comprehensive counselling in decision making for their child.