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

Abstract excerpt

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. OBJECTIVE/DESIGN: We report a 32-year-old female patient with severe Leydig cell...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Codon, Nonsense
• Share to Disorder of Sex Development, 46,XY