Central and Gonadal Hypogonadism in X-Linked Lissencephaly
2006
Objective: To directly test gonadal function in a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) in light of lack of previous functional data. Study design and Results: We studied an infant who failed to increase testosterone levels in response to hCG stimulation. Conclusion: In XLAG, the gonads are not only structurally dysgenetic but also functionally abnormal.
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