Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia

Anastasia P. Athanasoulia, Günter K. Stalla, Matthias K. Auer

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BACKGROUND: Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with the normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the lutropin/choriogonadotropin receptor gene, resulting in the impairment of either the binding of hormone or signal transduction …