Abstract

To directly test gonadal function in a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) in light of lack of previous functional data. We studied an infant who failed to increase testosterone levels in response to hCG stimulation. In XLAG, the gonads are not only structurally dysgenetic but also functionally abnormal.

DOI 10.1515/jpem.2006.19.7.955