Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations.

Abstract excerpt

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH), the action of both mediated by the LH receptor (LHR). Mutations that inactivate the LHR cause Leydig cell hypoplasia (LCH), an autosomal recessive disorder. In its mild form, LCH patients present with male hypogonadism. In its severe form, patients present with male pseudohermaphroditism, with female external...

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