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What are the indications for prenatal diagnosis in the androgen insensitivity syndrome? Facing clinical heterogeneity of phenotypes for the same genotype

Patients with androgen insensitivity (AIS) syndrome are 46,XY individuals presenting at birth with complete or incomplete masculinization of their external genitalia. It is now well established that AIS is an X-linked disorder due to structural or functional abnormalities in the androgen receptor (AR). However, a large spectrum of clinical phenotypes is observed, ranging from complete female phenotype to "mild" hypopadias.

This clinical diversity is associated with a biological heterogeneity, since a variety of quantitative and qualitative abnormalities in AR binding parameters have been found in cultured genital skin fibroblasts from AIS patients. In particular, there is a wide spectrum in AR binding capacity, from undetectable to supranormal numbers of binding sites with no apparent inverse correlation with the degree of virilization. These studies have been invaluable for the understanding of the physiopathology of AIS, but remain difficult assays to perform and time-consuming in cell culture, owing to the relatively large