Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia

The pathogenesis of the development of ambiguous genitalia reported in some 46,XY patients with Smith‐Lemli‐Opitz syndrome is not understood. Presumably, it is related to the 7‐dehydrocholes‐terol reductase deficiency present in these patients. In this study we have evaluated testicular function, bo...

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